Disease The intractable diseases designated by MHLW, Japan

Diseases : 338 - Clinical trials : 33,695 / Drugs : 21,110 - ( DrugBank : 2,155 ) / Drug target genes : 623 - Drug target pathways : 291

ID Disease name [Group] Clinical trial
Phase 1 / 2 / 3 / 4 		Drug
[ DrugBank ] 		Target gene
Target pathway 		Domestic patients (1) MHLW,
(2) Med expenses recipients (FY2021)
 1 Spinal and bulbar muscular atrophy [Neu] 💬
"Spinobulbar muscular atrophy", "SBMA", "Kennedy disease", "Kennedy-Alter-Sung syndrome"		 17 trials 
 0 / 9 / 2 / 1 💬 		 16 drugs 
 [ 8 drugs ] 		 10 genes 
 17 pathways 		(1) 1,223 patients
(2) 1,641 patients
Age distribution💬
 2 Amyotrophic lateral sclerosis [Neu] 💬
"ALS"		 624 trials 
 230 / 280 / 220 / 27 💬 		 611 drugs 
 [ 160 drugs ] 		 172 genes 
 225 pathways 		(1) 9,096 patients
(2) 9,968 patients
Age distribution💬
 3 Spinal muscular atrophy [Neu] 💬
"Myelopathic muscular atrophy", "Spinal muscular atrophy type I", "SMA I", "Werdnig-Hoffman disease", "Spinal muscular atrophy type II", "SMA II", "Dubowitz disease", "Spinal muscular atrophy type III", "SMA III", "Kugelberg-Welander disease", "Spinal muscular atrophy type IV", "SMA IV"		 217 trials 
 112 / 116 / 102 / 27 💬 		 149 drugs 
 [ 33 drugs ] 		 54 genes 
 80 pathways 		(1) 712 patients
(2) 929 patients
Age distribution💬
 4 Primary lateral sclerosis [Neu] 💬
"PLS"		 7 trials 
 3 / 2 / 0 / 1 💬 		 17 drugs 
 [ 9 drugs ] 		 19 genes 
 32 pathways 		(1) 175 patients (By the research group)
(2) 140 patients
Age distribution💬
 5 Progressive supranuclear palsy [Neu] 💬
"PSP"		 95 trials 
 46 / 43 / 11 / 6 💬 		 119 drugs 
 [ 40 drugs ] 		 65 genes 
 108 pathways 		(1) About 8,100 patients
(2) 12,557 patients
Age distribution💬
 6 Parkinson disease [Neu] 💬
"Disease Parkinson's"		 2,298 trials 
 830 / 689 / 593 / 293 💬 		 2,202 drugs 
 [ 350 drugs ] 		 188 genes 
 202 pathways 		(1) About 108,800 patients (estimated from Parkinson disease related diseases)
(2) 140,473 patients
Age distribution💬
 7 Corticobasal degeneration [Neu] 💬
"Corticobasal syndrome", "CBD"		 18 trials 
 5 / 3 / 1 / 0 💬 		 35 drugs 
 [ 13 drugs ] 		 9 genes 
 38 pathways 		(1) 3,500 patients
(2) 4,517 patients
Age distribution💬
 8 Huntington disease [Neu] 💬
"Huntington chorea"		 229 trials 
 119 / 123 / 50 / 16 💬 		 193 drugs 
 [ 60 drugs ] 		 84 genes 
 158 pathways 		(1) 933 patients
(2) 918 patients
Age distribution💬
 9 Neuroacanthocytosis [Neu] 💬
"Choreoacanthocytosis", "Chorea-acanthocytosis", "Levine-Critchley syndrome", "McLeod syndrome", "Huntington disease-like 2", "HDL2", "Pantothenate kinase-associated neurodegeneration", "PKAN", "Hallervorden-Spatz syndrome"		 -  -  - (1) Less than 100 patients (By the research group)
(2) 35 patients
Age distribution💬
 10 Charcot-Marie-Tooth disease [Neu] 💬
"CMT", "Charcot-Marie-Tooth disease type 1", "CMT1", "Demyelinating CMT", "Charcot-Marie-Tooth disease type 2", "CMT2", "Axonal CMT", "Intermediate Charcot-Marie-Tooth disease", "CMT-I", "Intermediate CMT"		 39 trials 
 23 / 16 / 24 / 4 💬 		 44 drugs 
 [ 9 drugs ] 		 11 genes 
 15 pathways 		(1) 6,250 patients (By the research group)
(2) 781 patients
Age distribution💬
 11 Myasthenia gravis [Neu] 💬
"MG", "Generalized myasthenia gravis", "Generalized MG", "GMG", "Systemic myasthenia gravis", "Systemic MG", "Ocular myasthenia gravis", "Ocular MG", "OMG"		 315 trials 
 109 / 100 / 194 / 27 💬 		 232 drugs 
 [ 77 drugs ] 		 46 genes 
 126 pathways 		(1) 22,998 patients
(2) 25,568 patients
Age distribution💬
 12 Congenital myasthenic syndrome [Neu] 💬
"End-plate acetylcholine receptor deficiency", "Slow-channel congenital myasthenic syndrome", "Fast-channel congenital myasthenic syndrome", "Sodium channel myasthenia", "End-plate acetylcholine esterase deficiency", "Congenital myasthenic syndrome with episodic apnoea", "Dok-7 myasthenia", "DOK7 congenital myasthenic syndrome"		 5 trials 
 1 / 0 / 0 / 0 💬 		 7 drugs 
 [ 3 drugs ] 		 5 genes 
 13 pathways 		(1) Less than 100 patients (By the research group)
(2) 11 patients
Age distribution💬
 13 Multiple sclerosis/Neuromyelitis optica [Neu] 💬
"Multiple sclerosis", "MS", "Neuromyelitis optica", "Neuromyelitis optica spectrum disorder", "NMOSD", "Balo concentric sclerosis", "Baló concentric sclerosis"		 3,342 trials 
 1052 / 784 / 1218 / 508 💬 		 2,355 drugs 
 [ 406 drugs ] 		 269 genes 
 241 pathways 		(1) 17,073 patients
(2) 21,967 patients
Age distribution💬
 14 Chronic inflammatory demyelinating polyneuropathy [Neu] 💬
"Chronic inflammatory demyelinating poly (radiculo) neuropathy", "CIDP", "Multifocal motor neuropathy"		 167 trials 
 45 / 87 / 74 / 15 💬 		 158 drugs 
 [ 38 drugs ] 		 13 genes 
 23 pathways 		(1) 4,633 patients
(2) 5,108 patients
Age distribution💬
 15 Inclusion body myositis [Neu] 💬
 42 trials 
 31 / 18 / 24 / 5 💬 		 60 drugs 
 [ 16 drugs ] 		 12 genes 
 123 pathways 		(1) 1,000 patients (By the research group)
(2) 756 patients
Age distribution💬
 16 Crow-Fukase syndrome [Neu] 💬
"POEMS syndrome", "Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome", "Takatsuki disease", "PEP syndrome", "Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome"		 13 trials 
 1 / 9 / 2 / 0 💬 		 18 drugs 
 [ 8 drugs ] 		 5 genes 
 81 pathways 		(1) 340 patients (By the research group)
(2) 223 patients
Age distribution💬
 17 Multiple system atrophy [Neu] 💬
"MSA-C", "MSA-P", "Olivopontocerebellar atrophy", "OPCA", "Striatonigral degeneration", "Shy-Drager syndrome"		 118 trials 
 50 / 35 / 41 / 8 💬 		 163 drugs 
 [ 49 drugs ] 		 61 genes 
 112 pathways 		(1) 11,733 patients
(2) 11,255 patients
Age distribution💬
 18 Spinocerebellar degeneration [Neu] 💬
"SCD", "Spinocerebellar ataxia type I", "SCA1", "Spinocerebellar ataxia type II", "SCA2", "Spinocerebellar ataxia type III", "SCA3", "Machado-Joseph disease", "Spinocerebellar ataxia type VI", "SCA6", "Spinocerebellar ataxia type VII", "SCA7", "Spinocerebellar ataxia type X", "SCA10", "Spinocerebellar ataxia type XII", "SCA12", "Dentatorubural pallidoluysian atrophy", "Dentatorubropallidoluysial atrophy", "DRPLA", "Naito-Koyanagi disease", "Friedreich ataxia", "FRDA", "Ataxia with vitamin E deficiency", "AVED", "Early-onset ataxia with ocular motor ataxia and hypoalbuminemia", "EOAH"		 71 trials 
 18 / 42 / 18 / 5 💬 		 99 drugs 
 [ 30 drugs ] 		 45 genes 
 65 pathways 		(1) 25,447 patients
(2) 26,630 patients
Age distribution💬
 19 Lysosomal storage disease [Met] 💬
"Lysosomal disease", "Gaucher disease", "Niemann-Pick disease type A/B", "Niemann-Pick type A", "NPD-A", "NPA", "Niemann-Pick type B", "NPD-B", "NPB", "Acid sphingomyelinase deficiency", "ASMD", "Niemann-Pick disease type C", "Niemann-Pick type C", "NPD-C", "NPC", "GM1-gangliosidosis", "GM1-gangliosidoses", "GM2-gangliosidosis", "GM2-gangliosidoses", "Tay-Sachs disease", "Sandhoff disease", "Krabbe disease", "Metachromatic leukodystrophy", "MLD", "Multiple-sulfatase deficiency", "Farber disease", "Mucopolysaccharidosis type I", "Mucopolysaccharidosis I", "MPS I", "Hurler syndrome", "Hurler-Scheie syndrome", "Scheie syndrome", "Mucopolysaccharidosis type II", "Mucopolysaccharidosis II", "MPS II", "Hunter syndrome", "Mucopolysaccharidosis type III", "Mucopolysaccharidosis III", "MPS III", "Sanfilippo syndrome", "Mucopolysaccharidosis type IV", "Mucopolysaccharidosis IV", "MPS IV", "MPS IVA", "Morquio syndrome", "Morquio A syndrome", "Mucopolysaccharidosis type VI", "Mucopolysaccharidosis VI", "MPS VI", "Maroteaux-Lamy syndrome", "Mucopolysaccharidosis type VII", "Mucopolysaccharidosis VII", "MPS VII", "Sly syndrome", "Mucopolysaccharidosis type IX", "Mucopolysaccharidosis IX", "MPS IX", "Hyaluronidase deficiency", "Sialidosis", "Galactosialidosis", "Mucolipidosis II", "Mucolipidosis type II", "I-cell disease", "Mucolipidosis III", "Mucolipidosis type III", "Alpha-Mannosidosis", "Alpha-Mannosidase Deficiency", "Beta-Mannosidosis", "Beta-Mannosidase Deficiency", "Fucosidosis", "Aspartylglucosaminuria", "Schindler disease", "Kanzaki disease", "Pompe disease", "Acid lipase deficiency", "Wolman disease", "Cholesterol ester storage disease", "Danon disease", "Free sialic acid storage disease", "Infantile sialic acid storage disease", "ISSD", "Salla disease", "Ceroid lipofuscinosis", "Fabry disease", "Cystinosis"		 854 trials 
 537 / 349 / 316 / 126 💬 		 716 drugs 
 [ 105 drugs ] 		 70 genes 
 191 pathways 		(1) 911 patients
(2) 1,582 patients
Age distribution💬
 20 Adrenoleukodystrophy [Met] 💬
"ALD", "Childhood cerebral adrenoleukodystrophy", "Childhood cerebral ALD", "CCALD", "Adolescent cerebral adrenomyeloneuropathy", "AdolCALD", "Adrenomyeloneuropathy", "AMN", "Adult cerebral adrenoleukodystrophy", "ACALD", "Cerebellum-brain stem type adrenoleukodystrophy", "Addison-only adrenoleukodystrophy", "AO ALD", "Adrenoleukodystrophy (Female onset)"		 53 trials 
 45 / 32 / 27 / 8 💬 		 88 drugs 
 [ 31 drugs ] 		 23 genes 
 123 pathways 		(1) 193 patients
(2) 252 patients
Age distribution💬
 21 Mitochondrial disease [Met] 💬
 33 trials 
 6 / 18 / 10 / 2 💬 		 42 drugs 
 [ 32 drugs ] 		 47 genes 
 67 pathways 		(1) 1,087 patients
(2) 1,608 patients
Age distribution💬
 22 Moyamoya disease [Neu] 💬
"Occlusive disease in circle of Willis"		 14 trials 
 1 / 1 / 1 / 3 💬 		 21 drugs 
 [ 14 drugs ] 		 28 genes 
 44 pathways 		(1) 15,177 patients
(2) 13,431 patients
Age distribution💬
 23 Prion disease [Neu] 💬
"Creutzfeldt-Jakob disease", "CJD", "Sporadic Creutzfeldt-Jakob disease", "Sporadic CJD", "sCJD", "Gerstmann-Straussler-Scheinker syndrome", "GSS", "Fatal familial insomnia", "FFI", "Environmentally acquired CJD", "Kuru disease", "Iatrogenic CJD", "iCJD", "Variant CCJD", "vCJD"		 4 trials 
 0 / 1 / 0 / 0 💬 		 5 drugs 
 [ 2 drugs ] 		 - (1) 584 patients
(2) 481 patients
Age distribution💬
 24 Subacute sclerosing panencephalitis [Neu] 💬
"SSPE"		 -  -  - (1) About 100 patients
(2) 66 patients
Age distribution💬
 25 Progressive multifocal leukoencephalopathy [Neu] 💬
"PML", "Leukoencephalopathy, progressive multifocal"		 25 trials 
 3 / 6 / 0 / 2 💬 		 35 drugs 
 [ 21 drugs ] 		 8 genes 
 37 pathways 		(1) Less than 100 patients (By the research group)
(2) 88 patients
Age distribution💬
 26 HTLV-1-associated myelopathy [Neu] 💬
"Tropical spastic paraparesis", "HTLV-1", "HTLV-I-associated myelopathy"		 28 trials 
 10 / 14 / 10 / 0 💬 		 48 drugs 
 [ 28 drugs ] 		 38 genes 
 127 pathways 		(1) 3,000 patients (By the research group)
(2) 977 patients
Age distribution💬
 27 Idiopathic basal ganglia calcification [Neu] 💬
"IBGC", "Fahr disease", "Familial idiopathic basal ganglia calcification", "FIBGC", "Primary familial brain calcification", "PFBC"		 -  -  - (1) 200 patients (By the research group)
(2) 127 patients
Age distribution💬
 28 Systemic amyloidosis [Met] 💬
"AL amyloidosis", "Immunoglobulin light chain amyloidosis", "Amyloid light-chain amyloidosis", "Immunoglobulin-related amyloidosis", "Reactive AA amyloidosis", "Senile transthyretin amyloidosis", "Senile TTR amyloidosis", "Senile systemic amyloidosis", "Familial amyloidosis", "Familial amyloid polyneuropathy", "FAP"		 261 trials 
 95 / 115 / 103 / 13 💬 		 276 drugs 
 [ 81 drugs ] 		 68 genes 
 178 pathways 		(1) 1,802 patients
(2) 4,588 patients
Age distribution💬
 29 Ullrich disease [Neu] 💬
"Ullrich congenital muscular dystrophy", "Collagen VI-related myopathy"		 -  -  - (1) About 300 patients (By the research group)
(2) 21 patients
Age distribution💬
 30 Distal myopathy [Neu] 💬
"Distal muscular dystrophy", "Miyoshi myopathy", "Distal dysferlinopathy", "Distal myopathy with rimmed vacuoles", "DMRV/GNE myopathy", "Oculopharyngodistal myopathy"		 15 trials 
 1 / 5 / 12 / 0 💬 		 17 drugs 
 [ 3 drugs ] 		 1 gene 
 1 pathway 		(1) 400 patients (By the research group)
(2) 294 patients
Age distribution💬
 31 Bethlem myopathy [Neu] 💬
"Beth Rem myopathy"		 -  -  - (1) Less than 100 patients (By the research group)
(2) 19 patients
Age distribution💬
 32 Autophagic vacuolar myopathy [Neu] 💬
"Danon disease", "X-linked myopathy with excessive autophagy", "XMEA"		 1 trial 
 1 / 0 / 0 / 0 💬 		 1 drug 
 [ - ] 		 - (1) Less than 100 patients (By the research group)
(2) 9 patients
Age distribution💬
 33 Schwartz-Jampel syndrome [Neu] 💬
"Schwarz-Yanperu syndrome", "SJS", "Myotonic chondrodystrophy", "Cartilage dystrophic myotonia", "Schwartz-Jampel syndrome type 1", "SJS type 1", "Schwartz-Jampel syndrome type 2", "SJS type 2", "Stuve-Wiedemann syndrome", "Stüve-Wiedemann syndrome"		 -  -  - (1) Less than 100 patients (By the research group)
(2) 1 patient
Age distribution💬
 34 Neurofibromatosis [Skin] 💬
"Neurofibromatosis type I", "NF1", "von Recklinghausen disease", "Neurofibromatosis type II", "NF2"		 137 trials 
 56 / 88 / 14 / 8 💬 		 213 drugs 
 [ 76 drugs ] 		 87 genes 
 200 pathways 		(1) 3,588 patients
(2) 4,056 patients
Age distribution💬
 35 Pemphigus [Skin] 💬
"Pemphigus vulgaris", "Pemphigus foliaceus", "Pemphigus erythematosus", "Herpetiform pemphigus", "Drug-induced pemphigus", "DIP", "Paraneoplastic pemphigus", "PNP"		 98 trials 
 44 / 36 / 47 / 7 💬 		 126 drugs 
 [ 41 drugs ] 		 23 genes 
 168 pathways 		(1) About 6,000 patients
(2) 3,236 patients
Age distribution💬
 36 Epidermolysis bullosa [Skin] 💬
"Epidermolysis bullosa simplex", "EBS", "Junctional epidermolysis bullosa", "JEB", "Junctional epidermolysis bullosa type Herlitz", "JEB-H", "Junctional epidermolysis bullosa type non-Herlitz", "JEB-nH", "Dominant dystrophic epidermolysis bullosa", "DDEB", "Dystrophic epidermolysis bullosa", "DEB", "Epidermolysis bullosa dystrophica", "Recessive dystrophic epidermolysis bullosa", "RDEB", "Kindler syndrome"		 160 trials 
 114 / 95 / 53 / 16 💬 		 195 drugs 
 [ 47 drugs ] 		 50 genes 
 124 pathways 		(1) 347 patients
(2) 290 patients
Age distribution💬
 37 Generalised pustular psoriasis [Skin] 💬
"Pustular psoriasis", "Acute generalised pustular psoriasis, von Zumbusch type", "Herpetic impetigo", "Generalization of acrodermatitis continua", "Generalization of dermatitis continua of the extremities", "Infantile generalized pustular psoriasis", "Pediatric generalized pustular psoriasis"		 74 trials 
 31 / 30 / 38 / 9 💬 		 53 drugs 
 [ 20 drugs ] 		 20 genes 
 101 pathways 		(1) 2,072 patients
(2) 2,070 patients
Age distribution💬
 38 Stevens-Johnson syndrome [Skin] 💬
"SJS", "Mucocutaneous ocular syndrome"		 13 trials 
 10 / 9 / 4 / 2 💬 		 23 drugs 
 [ 9 drugs ] 		 15 genes 
 101 pathways 		(1) About 1,500 patients
(2) 169 patients
Age distribution💬
 39 Toxic epidermal necrolysis [Skin] 💬
"Toxic epidermal necrosis", "TEN"		 13 trials 
 5 / 8 / 2 / 1 💬 		 19 drugs 
 [ 8 drugs ] 		 11 genes 
 103 pathways 		(1) About 200 patients
(2) 70 patients
Age distribution💬
 40 Takayasu arteritis [Imm] 💬
"Aortitis syndrome", "Pulseless disease"		 25 trials 
 1 / 4 / 8 / 3 💬 		 50 drugs 
 [ 21 drugs ] 		 25 genes 
 114 pathways 		(1) About 7,000 patients
(2) 4,587 patients
Age distribution💬
 41 Giant cell arteritis [Imm] 💬
"Temporal arteritis"		 128 trials 
 65 / 42 / 77 / 16 💬 		 139 drugs 
 [ 36 drugs ] 		 33 genes 
 124 pathways 		(1) About 700 patients (By the research group)
(2) 2,066 patients
Age distribution💬
 42 Polyarteritis nodosa [Imm] 💬
"PAN"		 14 trials 
 0 / 5 / 6 / 2 💬 		 27 drugs 
 [ 16 drugs ] 		 26 genes 
 104 pathways 		(1) [Disease ID 42-43 total] 9,610 patients
(2) 2,186 patients
Age distribution💬
 43 Microscopic polyangiitis [Imm] 💬
"MPA"		 87 trials 
 61 / 41 / 41 / 22 💬 		 84 drugs 
 [ 20 drugs ] 		 15 genes 
 88 pathways 		(1) [Disease ID 42-43 total] 9,610 patients
(2) 10,626 patients
Age distribution💬
 44 Wegener granulomatosis [Imm] 💬
"Multiple vasculitis granulomatous disease", "Granulomatosis with polyangiitis"		 92 trials 
 66 / 37 / 50 / 22 💬 		 106 drugs 
 [ 27 drugs ] 		 22 genes 
 78 pathways 		(1) 1,942 patients
(2) 3,223 patients
Age distribution💬
 45 Eosinophilic granulomatosis with Polyangiitis [Imm] 💬
"EGPA", "Eosinophilic multiple vasculitis granulomatous disease", "Allergic granulomatous angiitis", "AGA", "Churg-Strauss syndrome", "CSS"		 28 trials 
 8 / 7 / 13 / 5 💬 		 42 drugs 
 [ 18 drugs ] 		 18 genes 
 100 pathways 		(1) About 1,800 patients (By the research group)
(2) 5,839 patients
Age distribution💬
 46 Malignant rheumatoid arthritis [Imm] 💬
"MRA", "Rheumatoid vasculitis", "RV", "Rheumatoid arthritis", "RA", "Systemic rheumatoid vasculitis", "SRV", "Malignant rheumatoid arthritis with peripheral arteritis"		 4,325 trials 
 1377 / 993 / 1220 / 660 💬 		 2,671 drugs 
 [ 417 drugs ] 		 187 genes 
 224 pathways 		(1) 6,255 patients
(2) 5,075 patients
Age distribution💬
 47 Buerger disease [Imm] 💬
"Thromboangiitis obliterans"		 9 trials 
 0 / 3 / 0 / 0 💬 		 13 drugs 
 [ 7 drugs ] 		 6 genes 
 15 pathways 		(1) 7,109 patients
(2) 1,858 patients
Age distribution💬
 48 Primary antiphospholipid syndrome [Imm] 💬
"Primary antiphospholipid antibody syndrome", "Primary APS", "PAPS"		 4 trials 
 0 / 1 / 1 / 0 💬 		 5 drugs 
 [ 3 drugs ] 		 - (1) About 10,000 patients (By the research group)
(2) 892 patients
Age distribution💬
 49 Systemic lupus erythematosus [Imm] 💬
"SLE"		 946 trials 
 437 / 391 / 263 / 114 💬 		 722 drugs 
 [ 186 drugs ] 		 117 genes 
 199 pathways 		(1) 60,122 patients
(2) 64,304 patients
Age distribution💬
 50 Dermatomyositis [Imm] 💬
"Polymyositis"		 182 trials 
 64 / 77 / 58 / 17 💬 		 229 drugs 
 [ 88 drugs ] 		 48 genes 
 147 pathways 		(1) About 19,500 patients
(2) 25,259 patients
Age distribution💬
 51 Scleroderma [Skin] 💬
"Systemic sclerosis", "SSc", "Diffuse cutaneous SSc", "dcSSc", "Limited cutaneous SSc", "lcSSc"		 523 trials 
 282 / 255 / 152 / 66 💬 		 608 drugs 
 [ 156 drugs ] 		 114 genes 
 215 pathways 		(1) About 20,000 patients estimated though the latest number of patients unknown
(2) 26,851 patients
Age distribution💬
 52 Mixed connective tissue disease [Skin] 💬 [Imm] 💬
 8 trials 
 0 / 5 / 1 / 0 💬 		 7 drugs 
 [ 3 drugs ] 		 1 gene 
 1 pathway 		(1) 11,005 patients
(2) 10,009 patients
Age distribution💬
 53 Sjogren syndrome [Imm] 💬
"Sjögren syndrome", "Syndrome Sjogren's", "SS", "Autoimmune exocrinopathy", "Primary Sjogren syndrome", "Primary Sjögren syndrome", "pSS", "Secondary Sjogren syndrome", "Secondary Sjögren syndrome", "sSS"		 283 trials 
 82 / 179 / 34 / 29 💬 		 320 drugs 
 [ 101 drugs ] 		 56 genes 
 181 pathways 		(1) About 66,300 patients (By the research group)
(2) 18,118 patients
Age distribution💬
 54 Adult still disease [Imm] 💬
"Adult-onset Stills disease"		 2 trials 
 0 / 0 / 0 / 0 💬 		 1 drug 
 [ 1 drug ] 		 1 gene 
 12 pathways 		(1) About 4,800 patients (By the research group)
(2) 4,206 patients
Age distribution💬
 55 Relapsing polychondritis [Imm] 💬
 7 trials 
 1 / 3 / 0 / 0 💬 		 10 drugs 
 [ 9 drugs ] 		 12 genes 
 100 pathways 		(1) About 500 patients (By the research group)
(2) 936 patients
Age distribution💬
 56 Behcet disease [Imm] 💬
"Behçet disease", "BD", "Complete Behcet disease", "Complete Behçet disease", "CBD", "Incomplete Behcet disease", "Incomplete Behçet disease", "Special-type Behcet disease", "Special-type Behçet disease", "Special-type BD"		 76 trials 
 10 / 20 / 24 / 6 💬 		 110 drugs 
 [ 32 drugs ] 		 36 genes 
 116 pathways 		(1) 20,035 patients
(2) 15,122 patients
Age distribution💬
 57 Idiopathic dilated cardiomyopathy [Card] 💬
 12 trials 
 3 / 6 / 1 / 3 💬 		 25 drugs 
 [ 12 drugs ] 		 9 genes 
 34 pathways 		(1) 27,968 patients
(2) 18,724 patients
Age distribution💬
 58 Hypertrophic cardiomyopathy [Card] 💬
"HCM", "Nonobstructive hypertrophic cardiomyopathy", "Nonobstructive HCM", "Obstructive hypertrophic cardiomyopathy", "Obstructive HCM", "OHCM", "Hypertrophic obstructive cardiomyopathy", "HOCM", "Mid-ventricular obstructive hypertrophic cardiomyopathy", "MVOHCM", "Mid-ventricular hypertrophic obstructive cardiomyopathy", "MVHOCM", "Apical hypertrophic cardiomyopathy", "APH", "Expansion phase hypertrophic cardiomyopathy"		 119 trials 
 27 / 52 / 34 / 14 💬 		 163 drugs 
 [ 45 drugs ] 		 48 genes 
 161 pathways 		(1) 4,667 patients
(2) 4,201 patients
Age distribution💬
 59 Restricted cardiomyopathy [Card] 💬
"Restrictive cardiomyopathy", "Constrictive cardiomyopathy"		 -  -  - (1) 50 patients
(2) 60 patients
Age distribution💬
 60 Aplastic anemia [Hem] 💬
"Idiopathic aplastic anemia", "Secondary aplastic anemia", "Special-type aplastic anemia", "Congenital aplastic anemia"		 235 trials 
 55 / 143 / 30 / 16 💬 		 381 drugs 
 [ 83 drugs ] 		 44 genes 
 160 pathways 		(1) 10,287 patients
(2) 8,348 patients
Age distribution💬
 61 Autoimmune hemolytic anemia [Hem] 💬
"AIHA", "Warm AIHA", "WAIHA", "Cold agglutinin disease", "CAD", "Paroxysmal cold hemoglobinuria", "Mixed AIHA", "MAIHA", "Evans syndrome"		 137 trials 
 27 / 69 / 61 / 5 💬 		 127 drugs 
 [ 55 drugs ] 		 26 genes 
 153 pathways 		(1) About 2,600 patients
(2) 1,178 patients
Age distribution💬
 62 Paroxysmal nocturnal hemoglobinuria [Hem] 💬
"PNH", "Classic paroxysmal nocturnal hemoglobinuria", "Classic PNH", "Paroxysmal nocturnal hemoglobinuria, bone marrow failure type", "Paroxysmal nocturnal hemoglobinuria, mixed type"		 271 trials 
 125 / 106 / 157 / 27 💬 		 163 drugs 
 [ 49 drugs ] 		 22 genes 
 106 pathways 		(1) About 400 patients
(2) 959 patients
Age distribution💬
 63 Idiopathic thrombocytopenic purpura [Hem] 💬
"Primary immune thrombocytopenia"		 363 trials 
 144 / 82 / 175 / 53 💬 		 212 drugs 
 [ 43 drugs ] 		 47 genes 
 138 pathways 		(1) 24,956 patients
(2) 16,972 patients
Age distribution💬
 64 Thrombotic thrombocytopenic purpura [Hem] 💬
"TTP", "Upshaw-Schulman syndrome", "USS", "Acquired TTP", "Congenital TTP"		 86 trials 
 29 / 28 / 46 / 8 💬 		 81 drugs 
 [ 20 drugs ] 		 16 genes 
 63 pathways 		(1) Estimated occurrence: About 500 patients per year
(2) 361 patients
Age distribution💬
 65 Primary immunodeficiency [Hem] 💬
"X-linked severe combined immunodeficiency", "X-SCID", "Reticular dysgenesis", "Adenosine deaminase deficiency", "Omenn syndrome", "Purine nucleoside phosphorylase deficiency", "CD8 deficiency", "ZAP-70 deficiency", "MHC class I deficiency", "MHC class II deficiency", "Combined immunodeficiency", "Wiskott-Aldrich syndrome", "WAS", "Ataxia telangiectasia", "Nijmegen breakage syndrome", "Bloom syndrome", "Immunodeficiency, centromere region instability, facial anomalies syndrome", "ICF syndrome", "PMS2 deficiency", "Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome", "RIDDLE syndrome", "Schimke syndrome", "Netherton syndrome", "Thymic hypoplasia", "DiGeorge syndrome", "22q11.2 deletion syndrome", "Hyper-IgE syndrome", "Hepatic venoocclusive immunodeficiency", "Immunodeficiency with central hepatic vein atresia", "Dyskeratosis congenita", "X-linked agammaglobulinaemia", "Common variable immunodeficiency", "Hyper-IgM syndrome", "Isolated IgG subclass deficiency", "Selective IgA deficiency", "Specific antibody production deficiency", "Infant transient hypogammaglobulinemia", "Chédiak-Higashi syndrome", "Chediak-Higashi syndrome", "X-linked lymphoproliferative syndrome", "SAP deficiency", "SH2D1A/SLAM-associated protein deficiency", "XIAP deficiency", "X-linked inhibitor of apoptosis deficiency", "Autoimmune lymphoproliferative syndrome", "ALPS", "Familial hemophagocytic syndrome", "Perforin deficiency", "Munc13-4 deficiency", "Syntaxin 11 deficiency", "Munc18-2 deficiency", "Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy", "APECED", "Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome", "IPEX syndrome", "CD25 deficiency", "ITCH deficiency", "Primary phagocytic dysfunction", "Severe congenital neutropenia", "Cyclic neutropenia", "Hermanskyi-Pudlak syndrome type 2", "Hermanskyi-Pudlak syndrome 2", "Griscelli syndrome type 2", "Griscelli syndrome 2", "p14 deficiency", "Warts, hypogammaglobulinemia, infections, myelokathexis syndrome", "WHIM syndrome", "Glycogen storage disease type Ib", "Leukocyte adhesion deficiency", "Shwachman-Diamond syndrome", "Chronic granulomatous disease", "Myeloperoxidase deficiency", "Mendelian susceptibility to mycobacterial disease", "MSMD", "Anhidrotic ectodermal dysplasia with immunodeficiency", "EDA-ID", "Interleukin-1 receptor-associated kinase-4 deficiency", "IRAK4 deficiency", "MyD88 deficiency", "Chronic mucocutaneous candidiasis", "Epidermodysplasia verruciformis", "Herpes simplex encephalitis", "Caspase recruitment domain family member 9 deficiency", "CARD9 deficiency", "Trypanosomiasis", "Congenital complement deficiency", "C1q deficiency", "C1r deficiency", "C1s deficiency", "C2 deficiency", "C3 deficiency", "C4 deficiency", "C5 deficiency", "C6 deficiency", "C7 deficiency", "C8 deficiency", "C9 deficiency", "Factor D deficiency", "Properdin deficiency", "Factor I deficiency", "Factor H deficiency", "MASP1 deficiency", "3MC syndrome", "Mannose-binding protein-associated serine protease 2 deficiency", "MASP2 deficiency", "Immunodeficiency associated with FCN3 mutation", "FCN3", "Hereditary angioedema type 1", "Hereditary angioedema type I", "C1 inhibitor deficiency type 1", "C1 inhibitor deficiency type I", "Hereditary angioedema type 2", "Hereditary angioedema type II", "C1 inhibitor deficiency type 2", "C1 inhibitor deficiency type II", "Hereditary angioedema type 3", "Hereditary angioedema type III", "C1 inhibitor deficiency type 3", "C1 inhibitor deficiency type III"		 482 trials 
 203 / 202 / 161 / 59 💬 		 653 drugs 
 [ 119 drugs ] 		 92 genes 
 212 pathways 		(1) 1,383 patients
(2) 1,964 patients
Age distribution💬
 66 IgA nephropathy [Kid] 💬
"IgA nephritis", "Berger disease", "IgA-IgG nephropathy"		 255 trials 
 33 / 81 / 93 / 30 💬 		 255 drugs 
 [ 79 drugs ] 		 35 genes 
 137 pathways 		(1) About 33,000 patients (By the research group)
(2) 12,447 patients
Age distribution💬
 67 Polycystic kidney disease [Kid] 💬
"PKD", "PCKD", "Polycystic kidney", "Autosomal dominant PKD", "ADPKD", "Autosomal recessive PKD", "ARPKD"		 216 trials 
 94 / 77 / 108 / 27 💬 		 219 drugs 
 [ 50 drugs ] 		 39 genes 
 151 pathways 		(1) About 31,000 patients (By the research group)
(2) 12,164 patients
Age distribution💬
 68 Ossification of the ligamentum flavum [Bone] 💬
"Ossification of ligamentum flavum", "OLF"		 2 trials 
 0 / 0 / 0 / 0 💬 		 4 drugs 
 [ 4 drugs ] 		 1 gene 
 3 pathways 		(1) 2,360 patients
(2) 6,104 patients
Age distribution💬
 69 Ossification of posterior longitudinal ligament [Bone] 💬
 1 trial 
 0 / 0 / 0 / 0 💬 		 2 drugs 
 [ 3 drugs ] 		 - (1) 33,346 patients
(2) 32,406 patients
Age distribution💬
 70 Spinal stenosis [Bone] 💬
"Extensive spinal canal stenosis"		 96 trials 
 13 / 13 / 8 / 27 💬 		 203 drugs 
 [ 60 drugs ] 		 66 genes 
 89 pathways 		(1) 5,944 patients
(2) 5,000 patients
Age distribution💬
 71 Idiopathic osteonecrosis of the femoral head [Bone] 💬
"Idiopathic femoral head necrosis"		 3 trials 
 0 / 1 / 0 / 0 💬 		 5 drugs 
 [ 4 drugs ] 		 4 genes 
 11 pathways 		(1) 15,388 patients
(2) 18,817 patients
Age distribution💬
 72 Pituitary ADH secretion disorder [Endo] 💬
"Inappropriate antidiuretic hormone secretion", "Syndrome of inappropriate secretion of antidiuretic hormone", "Inappropriate ADH syndrome", "Syndrome of inappropriate ADH", "Central diabetes insipidus", "Syndrome of inappropriate secretion of ADH", "SIADH"		 40 trials 
 2 / 8 / 15 / 3 💬 		 28 drugs 
 [ 7 drugs ] 		 5 genes 
 9 pathways 		(1) [Disease ID 72-78 total] 17,069 patients
(2) 3,701 patients
Age distribution💬
 73 TSH-secreting pituitary adenoma [Endo] 💬
"Pituitary TSH secretion hyperthyroidism"		 1 trial 
 0 / 0 / 1 / 0 💬 		 3 drugs 
 [ 2 drugs ] 		 - (1) [Disease ID 72-78 total] 17,069 patients
(2) 173 patients
Age distribution💬
 74 Prolactin secreting pituitary adenoma [Endo] 💬
"Pituitary PRL secretion hyperthyroidism", "Prolactinoma", "Prolactin secreting adenoma"		 18 trials 
 3 / 6 / 1 / 1 💬 		 33 drugs 
 [ 10 drugs ] 		 16 genes 
 65 pathways 		(1) [Disease ID 72-78 total] 17,069 patients
(2) 2,177 patients
Age distribution💬
 75 Cushing disease [Endo] 💬
"Cushing"		 203 trials 
 130 / 82 / 89 / 40 💬 		 191 drugs 
 [ 51 drugs ] 		 62 genes 
 128 pathways 		(1) [Disease ID 72-78 total] 17,069 patients
(2) 911 patients
Age distribution💬
 76 Pituitary gonadotropin secretion hyperthyroidism [Endo] 💬
"Gonadotropin secreting pituitary adenoma", "Central precocious puberty", "Gonadotropin producing pituitary adenoma"		 28 trials 
 0 / 0 / 11 / 7 💬 		 46 drugs 
 [ 14 drugs ] 		 6 genes 
 19 pathways 		(1) [Disease ID 72-78 total] 17,069 patients
(2) 36 patients
Age distribution💬
 77 Growth hormone secreting pituitary adenoma [Endo] 💬
"Pituitary growth hormone secretion hyperthyroidism"		 1 trial 
 0 / 0 / 0 / 0 💬 		 1 drug 
 [ 1 drug ] 		 2 genes 
 20 pathways 		(1) [Disease ID 72-78 total] 17,069 patients
(2) 4,388 patients
Age distribution💬
 78 Hypopituitarism [Endo] 💬
"Anterior pituitary hypothyroidism", "Syndrome of abnormal secretion of gonadotropin", "Hyposecretion of gonadotropins", "Adrenocorticotropic hormone deficiency", "ACTH deficiency", "Thyroid-stimulating hormone deficiency", "TSH deficiency", "Growth hormone deficiency", "GH deficiency", "GHD", "Childhood GHD", "Childhood-onset GHD", "CGHD", "Adult GHD", "Adult-onset GHD", "AGHD", "Prolactin deficiency", "PRL deficiency"		 494 trials 
 140 / 108 / 157 / 67 💬 		 385 drugs 
 [ 49 drugs ] 		 44 genes 
 100 pathways 		(1) [Disease ID 72-78 total] 17,069 patients
(2) 19,006 patients
Age distribution💬
 79 Homozygous familial hypercholesterolemia [Met] 💬
 142 trials 
 61 / 43 / 93 / 12 💬 		 114 drugs 
 [ 29 drugs ] 		 9 genes 
 18 pathways 		(1) 140 patients
(2) 371 patients
Age distribution💬
 80 Resistance to thyroid hormone [Endo] 💬
"Syndrome of resistance to thyroid hormone", "Thyroid hormone insensitivity syndrome", "Refetoff syndrome", "RTH"		 1 trial 
 1 / 0 / 0 / 0 💬 		 6 drugs 
 [ 3 drugs ] 		 3 genes 
 3 pathways 		(1) About 3,000 patients (By the research group)
(2) 45 patients
Age distribution💬
 81 Congenital adrenal hyperplasia [Endo] 💬
"CAH", "Congenital adrenal enzyme deficiency", "Congenial adrenal cortex enzyme deficiency", "Congenital Lipoid Adrenal Hyperplasia", "3β-Hydroxysteroid Dehydrogenase Deficiency", "21-Hydroxylase deficiency", "21-OHD", "11β-Hydroxylase deficiency", "17α-Hydroxylase deficiency", "P450 oxidoreductase deficiency", "Aldosterone synthase deficiency"		 88 trials 
 30 / 41 / 38 / 6 💬 		 90 drugs 
 [ 23 drugs ] 		 12 genes 
 68 pathways 		(1) About 1,800 patients
(2) 945 patients
Age distribution💬
 82 Congenital adrenal hypoplasia [Endo] 💬
"X-linked congenital adrenal hypoplasia", "DAX-1 deficiency", "Congenital adrenal hypoplasia, autosomal recessive form", "Steroidogenic factor-1 deficiency", "SF-1 deficiency", "SF-1/Ad4BP deficiency", "IMAGe syndrome"		 -  -  - (1) About 1,000 patients
(2) 52 patients
Age distribution💬
 83 Addison disease [Endo] 💬
"Primary chronic adrenocortical insufficiency", "Autoimmune polyglandular syndrome", "Hypoparathyroidism-Addison-Monilia syndrome", "HAM syndrome", "Schmidt syndrome"		 20 trials 
 6 / 4 / 3 / 5 💬 		 43 drugs 
 [ 13 drugs ] 		 6 genes 
 18 pathways 		(1) About 1,000 patients (By the research group)
(2) 327 patients
Age distribution💬
 84 Sarcoidosis [Resp] 💬
 149 trials 
 53 / 64 / 30 / 26 💬 		 227 drugs 
 [ 81 drugs ] 		 82 genes 
 167 pathways 		(1) 26,763 patients
(2) 15,655 patients
Age distribution💬
 85 Idiopathic interstitial pneumonia [Resp] 💬
"IIPs", "Idiopathic pulmonary fibrosis", "IPF", "Usual interstitial pneumonia", "UIP", "Non-specific interstitial pneumonia", "NSIP", "Acute interstitial pneumonia", "AIP", "Diffuse alveolar damage", "DAD", "Cryptogenic organizing pneumonia", "COP", "Organizing pneumonia", "OP", "Desquamative interstitial pneumonia", "DIP", "Respiratory bronchiolitis - associated interstitial lung disease", "RB-ILD", "Lymphocytic interstitial pneumonia", "LIP"		 598 trials 
 211 / 235 / 160 / 60 💬 		 435 drugs 
 [ 116 drugs ] 		 100 genes 
 210 pathways 		(1) More than about 15,000 patients (Medical care eligibility certificate holders in fiscal year 2,014: 8,846 patients)
(2) 17,665 patients
Age distribution💬
 86 Pulmonary arterial hypertension [Resp] 💬
"PAH", "IPAH", "HPAH", "Eisenmenger syndrome"		 1,181 trials 
 419 / 302 / 467 / 174 💬 		 701 drugs 
 [ 126 drugs ] 		 105 genes 
 192 pathways 		(1) 2,299 patients
(2) 4,319 patients
Age distribution💬
 87 Pulmonary veno-occlusive disease [Resp] 💬
"Pulmonary capillary hemangiomatosis", "PVOD", "PCH"		 3 trials 
 1 / 1 / 0 / 0 💬 		 4 drugs 
 [ 3 drugs ] 		 4 genes 
 45 pathways 		(1) About 100 patients
(2) 24 patients
Age distribution💬
 88 Chronic thromboembolic pulmonary hypertension [Resp] 💬
"CTEPH", "Idiopathic chronic pulmonary thromboembolism"		 159 trials 
 82 / 51 / 70 / 19 💬 		 118 drugs 
 [ 23 drugs ] 		 13 genes 
 53 pathways 		(1) 1,810 patients
(2) 4,843 patients
Age distribution💬
 89 Lymphangioleiomyomatosis [Resp] 💬
"LAM", "Sporadic lymphangioleiomyomatosis", "Sporadic LAM", "Lymphangioleiomyomatosis with tuberous sclerosis", "TSC-LAM"		 39 trials 
 15 / 18 / 8 / 2 💬 		 46 drugs 
 [ 20 drugs ] 		 27 genes 
 137 pathways 		(1) 689 patients
(2) 912 patients
Age distribution💬
 90 Retinitis pigmentosa [Eye] 💬
"Rod dystrophy", "Cone-rod dystrophy", "Rod-Cone Dystrophy"		 130 trials 
 98 / 71 / 39 / 10 💬 		 180 drugs 
 [ 41 drugs ] 		 49 genes 
 109 pathways 		(1) 27,158 patients
(2) 22,223 patients
Age distribution💬
 91 Budd-Chiari syndrome [Gast] 💬
"BCS", "Primary Budd-Chiari syndrome", "Secondary Budd-Chiari syndrome"		 4 trials 
 0 / 0 / 0 / 1 💬 		 5 drugs 
 [ 4 drugs ] 		 4 genes 
 14 pathways 		(1) 293 patients
(2) 218 patients
Age distribution💬
 92 Idiopathic portal hypertension [Gast] 💬
"Banti syndrome"		 -  -  - (1) About 1,000 patients
(2) 301 patients
Age distribution💬
 93 Primary biliary cholangitis [Gast] 💬
"Primary biliary cirrhosis", "PBC", "Asymptomatic primary biliary cholangitis", "Asymptomatic rimary biliary cirrhosis", "aPBC", "Symptomatic primary biliary cholangitis", "Symptomatic primary biliary cirrhosis", "sPBC"		 282 trials 
 157 / 132 / 102 / 65 💬 		 245 drugs 
 [ 56 drugs ] 		 35 genes 
 113 pathways 		(1) 19,701 patients
(2) 16,996 patients
Age distribution💬
 94 Primary sclerosing cholangitis [Gast] 💬
"PSC", "Intrahepatic primary sclerosing cholangitis", "Intrahepatic PSC", "Extrahepatic primary sclerosing cholangitis", "Extrahepatic PSC", "Intrahepatic and extrahepatic primary sclerosing cholangitis", "Intrahepatic and extrahepatic PSC"		 142 trials 
 68 / 61 / 51 / 10 💬 		 113 drugs 
 [ 37 drugs ] 		 19 genes 
 139 pathways 		(1) About 400 patients
(2) 1,022 patients
Age distribution💬
 95 Autoimmune hepatitis [Gast] 💬
 52 trials 
 11 / 24 / 11 / 10 💬 		 68 drugs 
 [ 28 drugs ] 		 19 genes 
 112 pathways 		(1) About 10,000 patients
(2) 6,884 patients
Age distribution💬
 96 Crohn disease [Gast] 💬
"Terminal ileitis"		 2,400 trials 
 987 / 753 / 974 / 346 💬 		 1,391 drugs 
 [ 267 drugs ] 		 170 genes 
 215 pathways 		(1) 36,418 patients
(2) 48,320 patients
Age distribution💬
 97 Ulcerative colitis [Gast] 💬
 2,527 trials 
 1020 / 924 / 1049 / 306 💬 		 1,465 drugs 
 [ 259 drugs ] 		 144 genes 
 202 pathways 		(1) 143,733 patients
(2) 138,079 patients
Age distribution💬
 98 Eosinophilic gastrointestinal disease [Gast] 💬
"Eosinophilic gastroenteritis", "Eosinophilic esophagitis", "Eosinophilic colitis", "Eosinophilic gastro-intestinal disorder", "EGID", "Neonatal food-protein induced enterocolitis", "Neonatal Food-protein induced enterocolitis syndrome", "N-FPIES"		 171 trials 
 46 / 62 / 85 / 15 💬 		 184 drugs 
 [ 47 drugs ] 		 42 genes 
 141 pathways 		(1) About 5,000 patients (By the research group)
(2) 1,184 patients
Age distribution💬
 99 Chronic intestinal pseudo-obstruction [Gast] 💬
"Chronic idiopathic pseudo-bowel obstruction", "Chronic Idiopathic Intestinal Pseudo-Obstruction", "CIIP"		 4 trials 
 0 / 4 / 0 / 0 💬 		 9 drugs 
 [ 2 drugs ] 		 1 gene 
 4 pathways 		(1) Child case: 100 patients, Adult case: 1,300 patients
(2) 186 patients
Age distribution💬
 100 Megacystis microcolon intestinal hypoperistalsis syndrome [Gast] 💬
"MMIHS", "Huge bladder short and small colon intestinal peristalsis deficiency"		 -  -  - (1) Less than 100 patients (By the research group)
(2) 1 patient
Age distribution💬
 101 Congenital isolated hypoganglionosis [Gast] 💬
"Intestinal ganglion cells insignificant disease"		 -  -  - (1) About 100 patients (By the research group)
(2) 17 patients
Age distribution💬
 102 Rubinstein-Taybi syndrome [Chr] 💬
"RSTS", "Histone acetylation disorder"		 3 trials 
 0 / 2 / 0 / 0 💬 		 8 drugs 
 [ 1 drug ] 		 7 genes 
 17 pathways 		(1) About 200 patients (By the research group)
(2) 7 patients
Age distribution💬
 103 Cardio-facio-cutaneous syndrome [Chr] 💬
"CFC syndrome"		 -  -  - (1) About 200 patients (By the research group)
(2) 7 patients
Age distribution💬
 104 Costello syndrome [Chr] 💬
 -  -  - (1) About 100 patients (By the research group)
(2) 10 patients
Age distribution💬
 105 CHARGE syndrome [Chr] 💬
 -  -  - (1) About 5,000 patients (By the research group)
(2) 25 patients
Age distribution💬
 106 Cryopyrin-associated periodic syndrome [Imm] 💬
"Cryopyrin associated periodic fever syndrome", "Familial cold autoinflammatory syndrome", "FCAS", "Mucke-Wells syndrome", "MWS", "Chronic infantile neurologic cutaneous, and articular syndrome", "CINCA syndrome", "Neonatal onset multisystem inflammatory disease", "NOMID"		 42 trials 
 29 / 14 / 13 / 5 💬 		 24 drugs 
 [ 4 drugs ] 		 4 genes 
 48 pathways 		(1) About 100 patients (By the research group)
(2) 83 patients
Age distribution💬
 107 Juvenile idiopathic arthritis [Imm] 💬
"JIA", "Systemic juvenile idiopathic arthritis", "Systemic-onset juvenile idiopathic arthritis", "sJIA", "Joint-type juvenile idiopathic arthritis", "Joint-type JIA"		 441 trials 
 181 / 77 / 201 / 68 💬 		 282 drugs 
 [ 56 drugs ] 		 52 genes 
 142 pathways 		(1) About 8,000 patients
(2) 918 patients
Age distribution💬
 108 TNF receptor-associated periodic syndrome [Imm] 💬
 4 trials 
 5 / 1 / 2 / 1 💬 		 7 drugs 
 [ 1 drug ] 		 1 gene 
 44 pathways 		(1) Less than 100 patients (By the research group)
(2) 33 patients
Age distribution💬
 109 Atypical hemolytic uremic syndrome [Kid] 💬
"aHUS"		 115 trials 
 80 / 40 / 54 / 19 💬 		 37 drugs 
 [ 7 drugs ] 		 3 genes 
 10 pathways 		(1) Less than 200 patients (By the research group)
(2) 78 patients
Age distribution💬
 110 Blau syndrome [Imm] 💬
"Early-onset sarcoidosis", "Systemic granulomatous diseases", "Systemic inflammatory granulomatous disease", "Juvenile onset sarcoidosis", "Early-onset childhood sarcoidosis", "Childhood sarcoidosis", "Early onset sarcoidosis", "EOS"		 -  -  - (1) Less than 100 patients (By the research group)
(2) 22 patients
Age distribution💬
 111 Congenital myopathy [Neu] 💬
"Nemaline myopathy", "Central core disease", "Minicore myopathy", "Multi-minicore myopathy", "Myotubular myopathy", "X-linked myotubular myopathy", "XLMTM", "Centronuclear myopathy", "CNM", "Congenital fiber-type disproportion myopathy"		 11 trials 
 12 / 9 / 1 / 2 💬 		 17 drugs 
 [ 5 drugs ] 		 1 gene 
 9 pathways 		(1) About 1,000 patients
(2) 351 patients
Age distribution💬
 112 Marinesco-Sjogren syndrome [Neu] 💬
"Hereditary cerebellar ataxia-childhood cataracts"		 -  -  - (1) Less than 100 patients
(2) 5 patients
Age distribution💬
 113 Muscular dystrophy [Neu] 💬
"Dystrophinopathies", "Duchenne muscular dystrophy", "DMD", "Becker muscular dystrophy", "Limb-girdle muscular dystrophy", "Myotilinopathy", "Laminopathy", "Caveolinopathy", "Limb gridle muscular dystrophy 1C", "LGMD1C", "Desminopathy", "Sarcoglycanopathy", "α-dystroglycanopathy", "Congenital muscular dystrophy", "Facioscapulohumeral muscular dystrophy", "Emery-Dreifuss muscular dystrophy", "Oculopharyngeal muscular dystrophy", "Fukuyama-type congenital muscular dystrophy", "FCMD", "Walker-Warburg syndrome", "Muscle-eye-brain disease", "Myotonic dystrophy", "Integrin α7 deficient CMD", "CIntegrin α7 deficient ongenital muscular dystrophy", "Merosin-deficient congenital muscular dystrophy", "Ullrich congenital muscular dystrophy", "Rigid spine syndrome", "Dynamin 2 deficient congenital muscular dystrophy", "Telesonin-deficient congenital muscular dystrophy", "Congenital muscular dystrophy with mitochondrial structural abnormalities"		 622 trials 
 401 / 271 / 264 / 66 💬 		 485 drugs 
 [ 99 drugs ] 		 59 genes 
 168 pathways 		(1) About 25,400 patients
(2) 5,246 patients
Age distribution💬
 114 Non-dystrophic myotonia syndrome [Neu] 💬
"Non-dystrophic Myotonia", "Myotonia congenita", "Thomsen disease", "Autosomal-dominant myotonia congenita", "Becker disease", "Autosomal-recessive myotonia congenita", "Paramyotonia congenita", "Sodium channel myotonia"		 12 trials 
 1 / 3 / 5 / 0 💬 		 19 drugs 
 [ 5 drugs ] 		 18 genes 
 10 pathways 		(1) About 1,000 patients
(2) 23 patients
Age distribution💬
 115 Hereditary periodic paralysis [Neu] 💬
"Hereditary Hypokalemic Periodic Paralysis", "Andersen-Tawil syndrome", "Hereditary Hyperkalemic Periodic Paralysis"		 1 trial 
 1 / 0 / 0 / 0 💬 		 2 drugs 
 [ 2 drugs ] 		 13 genes 
 7 pathways 		(1) About 1,000 patients
(2) 60 patients
Age distribution💬
 116 Atopic myelitis [Neu] 💬
"Idiopathic eosinophilic myelitis"		 -  -  - (1) About 1,000 patients
(2) 47 patients
Age distribution💬
 117 Syringomyelia [Neu] 💬
"Symptomatic syringomyelia", "Asymptomatic syringomyelia", "Syringomyelia with Chiari I malformation", "Syringomyelia with Chiari II malformation", "Syringomyelia without Chiari malformation", "Secondary syringomyelia", "Idiopathic syringomyelia"		 3 trials 
 0 / 2 / 0 / 0 💬 		 5 drugs 
 [ 1 drug ] 		 - (1) About 3,000 patients
(2) 602 patients
Age distribution💬
 118 Myelomeningocele [Neu] 💬
"Myeloschisis", "Myelocele", "Myelocystocele", "Syringomyelocele"		 10 trials 
 1 / 1 / 0 / 1 💬 		 18 drugs 
 [ 7 drugs ] 		 8 genes 
 12 pathways 		(1) 5.0~6.0 cases occur per 10,000 born (500~600 child patients are born per year)
(2) 124 patients
Age distribution💬
 119 Isaacs syndrome [Neu] 💬
"Morvan syndrome", "Morvan fibrillary chorea", "Anti-VGKC antibody-associated limbic encephalitis"		 -  -  - (1) About 100 patients
(2) 108 patients
Age distribution💬
 120 Hereditary dystonia [Neu] 💬
"DYT1 dystonia", "DYT2 dystonia", "DYT3 dystonia", "X-linked dystonia-parkinsonism", "Lubag", "DYT4 dystonia", "DYT5 dystonia", "DYT5a dystonia", "DYT5b dystonia", "DYT14 dystonia", "Segawa syndrome", "SS", "Dopa-responsive dystonia", "DRD", "DYT6 dystonia", "DYT7 dystonia", "DYT8 dystonia", "Paroxysmal nonkinesigenic dyskinesia 1", "PNKD1", "DYT9 dystonia", "Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity", "Paroxysmal choreoathetosis and episodic ataxia and spasticity", "CSE", "DYT10 dystonia", "Episodic kinesigenic dyskinesia 1", "EKD1", "DYT11 dystonia", "Myoclonus-dystonia syndrome", "MDS", "DYT12 dystonia", "Rapid-onset dystonia-parkinsonism", "RDP", "Alternating hemiplegia of childhood", "AHC", "Cerebellar ataxia, areflexia, pes cavus, optic atropy, and sensorineural hearing loss", "CAPOS", "DYT13 dystonia", "DYT15 dystonia", "DYT16 dystonia", "DYT17 dystonia", "DYT18 dystonia", "Paroxysmal execise-induced dyskinesia", "PED", "DYT19 dystonia", "Episodic kinesigenic dyskinesia 2", "EKD2", "DYT20 dystonia", "Paroxysmal nonkinesigenic dyskinesia 2", "PNKD2", "Neurodegeneration with Brain Iron Accumulation 1", "Pantothenate kinase-associated neurodegeneration", "PKAN", "Classical PKAN", "Atypical PKAN", "NBIA1", "Hallervorden-Spatz syndrome", "Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, pallidal degeneration", "Neurodegeneration with Brain Iron Accumulation 2", "Infantile neuroaxonal dystrophy", "INAD", "Classical INAD", "Atypical INAD", "NBIA2", "Karak syndrome", "Neurodegeneration with Brain Iron Accumulation 3", "Neuroferritinopathy", "NBIA3", "Neurodegeneration with Brain Iron Accumulation 4", "Aceruloplasminemia", "Hereditary ceruloplasmin deficiency", "NBIA4", "Neurodegeneration with Brain Iron Accumulation 5", "NBIA5", "Beta-propeller protein-associated neurodegeneration", "BPAN", "Fatty Acid Hydroxylase-associated neurodegeneration", "FAHN", "Dysmyelinating leukodystrophy and spastic paraparasis with or without dystonia, spastic paraplegia 35"		 25 trials 
 11 / 3 / 17 / 3 💬 		 21 drugs 
 [ 4 drugs ] 		 2 genes 
 2 pathways 		(1) About 500 patients
(2) 113 patients
Age distribution💬
 121 Neuroferritinopathy [Neu] 💬
 -  -  - (1) Less than 100 patients
(2) 2 patients
Age distribution💬
 122 Superficial siderosis [Neu] 💬
"SS", "Classical superficial siderosis", "Classical SS", "Brain table hemosiderosis"		 4 trials 
 0 / 0 / 0 / 0 💬 		 9 drugs 
 [ 3 drugs ] 		 - (1) Less than 100 patients
(2) 198 patients
Age distribution💬
 123 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy [Neu] 💬
"CARASIL", "Cerebral autosomal recessive arteriopathy with baldness and degenerative spondylosis", "Autosomal recessive leukoencephalopathy with baldness and degenerative spondylosis", "Cerebral autosomal recessive arteriopathy", "Autosomal recessive leukoencephalopathy"		 -  -  - (1) Less than 100 patients
(2) 5 patients
Age distribution💬
 124 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy [Neu] 💬
"CADASIL", "Autosomal dominant cerebral artery disease with subcortical infarct and leukoencephalopathy", "Autosomal dominant cerebral artery disease"		 12 trials 
 11 / 8 / 2 / 2 💬 		 14 drugs 
 [ 5 drugs ] 		 6 genes 
 23 pathways 		(1) About 200 patients
(2) 187 patients
Age distribution💬
 125 Hereditary diffuse leukoencephalopathy with spheroid [Neu] 💬
"HDLS", "Hereditary diffuse leukoencephalopathy"		 1 trial 
 0 / 1 / 0 / 0 💬 		 9 drugs 
 [ 1 drug ] 		 - (1) Less than 100 patients
(2) 65 patients
Age distribution💬
 126 Perry syndrome [Neu] 💬
 -  -  - (1) Less than 100 patients
(2) 5 patients
Age distribution💬
 127 Frontotemporal lobar degeneration [Neu] 💬
"Frontotemporal dementia", "Semantic dementia"		 89 trials 
 30 / 36 / 29 / 8 💬 		 104 drugs 
 [ 33 drugs ] 		 40 genes 
 117 pathways 		(1) About 12,000 patients
(2) 1,311 patients
Age distribution💬
 128 Bickerstaff brainstem encephalitis [Neu] 💬
 -  -  - (1) Occurrence: About 100 patients per year
(2) 77 patients
Age distribution💬
 129 Acute encephalopathy with biphasic seizures and late reduced diffusion [Neu] 💬
"Epilepticus type biphasic acute encphalopathy", "Epilepticus type acute encphalopathy"		 1 trial 
 0 / 1 / 0 / 0 💬 		 1 drug 
 [ 1 drug ] 		 - (1) About 2,000~7,800 patients (Morbidity rate: 100~200 patients per year)
(2) 46 patients
Age distribution💬
 130 Congenital insensitivity to pain with anhydrosis [Neu] 💬
"CIPA", "Hereditary sensory and autonomic neuropathy type IV", "HSAN4", "Hereditary sensory and autonomic neuropathy type V", "HSAN5"		 -  -  - (1) About 200~300 patients
(2) 42 patients
Age distribution💬
 131 Alexander disease [Neu] 💬
"ALXDRD", "AxD", "Alexander Disease type 1", "ALXDRD1", "AxD1", "Alexander Disease type 2", "ALXDRD2", "AxD2", "Alexander disease type 3", "ALXDRD3", "AxD3"		 4 trials 
 3 / 3 / 4 / 0 💬 		 4 drugs 
 [ 1 drug ] 		 - (1) Less than 100 patients
(2) 46 patients
Age distribution💬
 132 Congenital supranuclear bulbar palsy [Neu] 💬
"Congenital suprabulbar paresis", "Worcester drought syndrome", "Worster-Drought syndrome"		 -  -  - (1) About 100 patients
(2) 8 patients
Age distribution💬
 133 Moebius syndrome [Neu] 💬
"Mobius syndrome", "Möbius syndrome"		 -  -  - (1) About 1,000 patients
(2) 13 patients
Age distribution💬
 134 Septo-optic dysplasia [Eye] 💬
"De Morsier syndrome"		 1 trial 
 0 / 0 / 0 / 1 💬 		 1 drug 
 [ - ] 		 - (1) About 500 patients
(2) 13 patients
Age distribution💬
 135 Aicardi syndrome [Neu] 💬
 1 trial 
 0 / 1 / 0 / 0 💬 		 9 drugs 
 [ 3 drugs ] 		 - (1) Less than 100 patients
(2) 15 patients
Age distribution💬
 136 Hemimegalencephaly [Neu] 💬
"Unilateral megalencephaly"		 -  -  - (1) Less than 100 patients
(2) 24 patients
Age distribution💬
 137 Focal cortical dysplasia [Neu] 💬
"FCD", "FCD type 1a", "FCD type 1b", "FCD type 1c", "FCD type 2a", "FCD type 2b", "FCD type 3a", "FCD type 3b", "FCD type 3c", "FCD type 3d"		 9 trials 
 0 / 6 / 0 / 0 💬 		 5 drugs 
 [ 3 drugs ] 		 1 gene 
 51 pathways 		(1) A few thousand patients
(2) 72 patients
Age distribution💬
 138 Nerve cell migration disorder [Neu] 💬
"Lissencephaly", "Neuronal migration defect", "Classical lissencephaly", "Ectopic gray matter", "Subcortical ectopic gray matter", "Periventricular nodular ectopic gray matter", "Polymicrogyria", "Cortical dysplasia with cobblestone appearance", "Schizencephaly", "Porencephaly", "Miller-Dieker syndrome", "Perisylvian polymicrogyria", "X-linked Lissencephaly"		 -  -  - (1) About 1,000 patients
(2) 60 patients
Age distribution💬
 139 Congenital cerebral hypomyelination [Neu] 💬
"Congenital cerebral white matter aplasia", "Pelizaeus-Merzbacher disease", "Pelizaeus-Merzbacher-like disease 1", "Pelizaeus-Merzbacher-like disease type 1", "Hypomyelination with atrophy of the basal ganglia and cerebellum", "18q-syndrome", "Chromosome 18q deletion syndrome", "Allan-Herndon-Dudley syndrome", "Mitochondrial Hsp60 chaperonopathy", "Salla disease", "Free sialic acid storage disease", "Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum", "Hypomyelination and congenital cataract", "Ataxia, delayed dentition, and hypomyelination", "Peripheral demyelinating neuropathy", "Central dysmyelinating leukodystrophy", "Waardenburg syndrome", "Hirschsprung disease"		 10 trials 
 1 / 7 / 0 / 0 💬 		 7 drugs 
 [ 2 drugs ] 		 2 genes 
 2 pathways 		(1) About 200 patients
(2) 38 patients
Age distribution💬
 140 Dorabe syndrome [Neu] 💬
"Dravet syndrome"		 104 trials 
 44 / 21 / 74 / 11 💬 		 61 drugs 
 [ 14 drugs ] 		 48 genes 
 63 pathways 		(1) About 3,000 patients
(2) 67 patients
Age distribution💬
 141 Mesial temporal lobe epilepsy with hippocampal sclerosis [Neu] 💬
"Medial temporal lobe epilepsy with hippocampal sclerosis", "Mesial temporal lobe epilepsy with bilateral hippocampal sclerosis", "Medial temporal lobe epilepsy"		 1 trial 
 1 / 1 / 0 / 0 💬 		 2 drugs 
 [ - ] 		 - (1) About 5,000 patients
(2) 73 patients
Age distribution💬
 142 Myoclonic absence epilepsy [Neu] 💬
 -  -  - (1) Less than 100 patients
(2) 4 patients
Age distribution💬
 143 Epilepsy with myoclonic-atonic seizure [Neu] 💬
"Epilepsy with myoclonic cataplexy"		 -  -  - (1) Less than 100 patients
(2) 22 patients
Age distribution💬
 144 Lennox-Gastaut syndrome [Neu] 💬
 101 trials 
 34 / 14 / 73 / 9 💬 		 68 drugs 
 [ 12 drugs ] 		 49 genes 
 60 pathways 		(1) [Disease ID 144-148 total] About 4,300 patients
(2) 282 patients
Age distribution💬
 145 West syndrome [Neu] 💬
"Infantile spasm"		 43 trials 
 16 / 16 / 17 / 9 💬 		 54 drugs 
 [ 15 drugs ] 		 27 genes 
 24 pathways 		(1) [Disease ID 144-148 total] About 4,300 patients
(2) 229 patients
Age distribution💬
 146 Ohtahara syndrome [Neu] 💬
"Early infantile epileptic encephalopathy with suppression burst"		 -  -  - (1) [Disease ID 144-148 total] About 4,300 patients
(2) 20 patients
Age distribution💬
 147 Early myoclonic encephalopathy [Neu] 💬
 -  -  - (1) [Disease ID 144-148 total] About 4,300 patients
(2) 10 patients
Age distribution💬
 148 Epilepsy of infancy with migrating focal seizure [Neu] 💬
"Infant epilepsy with migratory focus seizure", "Migrating partial seizures in infancy", "Infant epilepsy"		 -  -  - (1) [Disease ID 144-148 total] About 4,300 patients
(2) 21 patients
Age distribution💬
 149 Hemiconvulsion hemiplegia epilepsy syndrome [Neu] 💬
"One side convulsions", "Hemiplegia", "Epilepsy syndrome"		 25 trials 
 3 / 4 / 8 / 2 💬 		 40 drugs 
 [ 14 drugs ] 		 17 genes 
 20 pathways 		(1) Less than 100 patients
(2) 33 patients
Age distribution💬
 150 Ring chromosome 20 epilepsy syndrome [Neu] 💬
"Ring chromosome 20 syndrome"		 -  -  - (1) Less than 100 patients
(2) 15 patients
Age distribution💬
 151 Rasmussen encephalitis [Neu] 💬
 2 trials 
 0 / 1 / 1 / 0 💬 		 4 drugs 
 [ 2 drugs ] 		 6 genes 
 86 pathways 		(1) Less than 100 patients
(2) 46 patients
Age distribution💬
 152 PCDH19 related syndrome [Neu] 💬
"PCDH19 Epilepsy", "Epilepsy and mental retardation limited to females", "PCDH19 female pediatric epilepsy", "PCDH19-related epilepsy", "Protocadherin 19 (PCDH19)-related epilepsy"		 10 trials 
 5 / 5 / 5 / 1 💬 		 7 drugs 
 [ 1 drug ] 		 16 genes 
 7 pathways 		(1) Less than 100 patients
(2) 13 patients
Age distribution💬
 153 Acute encephalitis with refractory, repetitive partial seizure [Neu] 💬
repetitive partial seizure", "AERRPS", "Refractory frequent partial seizures intussusception acute encephalitis", "Febrile infection related epilepsy syndrome", "FIRES", "New onset refractory status epilepsy syndrome", "NORSE syndrome"		 -  -  - (1) About 100 patients
(2) 55 patients
Age distribution💬
 154 Epilepsy with continuous spikes and waves during slow sleep [Neu] 💬
"Epileptic encephalopathy with continuous spike-and-wave during sleep"		 5 trials 
 0 / 5 / 0 / 0 💬 		 4 drugs 
 [ 3 drugs ] 		 13 genes 
 7 pathways 		(1) [Disease ID 154-155 total] About 400 patients
(2) 27 patients
Age distribution💬
 155 Acquired aphasia with convulsive disorder [Neu] 💬
"Landau-Kleffner syndrome"		 1 trial 
 0 / 1 / 1 / 0 💬 		 2 drugs 
 [ 2 drugs ] 		 29 genes 
 14 pathways 		(1) [Disease ID 154-155 total] About 400 patients
(2) 8 patients
Age distribution💬
 156 Rett syndrome [Neu] 💬
"Typical Rett syndrome", "Atypical Rett syndrome"		 40 trials 
 3 / 22 / 16 / 0 💬 		 53 drugs 
 [ 19 drugs ] 		 77 genes 
 113 pathways 		(1) About 1,000 patients
(2) 98 patients
Age distribution💬
 157 Sturge-Weber syndrome [Neu] 💬
"Síndrome de Sturge-Weber"		 10 trials 
 3 / 6 / 1 / 1 💬 		 14 drugs 
 [ 4 drugs ] 		 5 genes 
 63 pathways 		(1) About 1,000 patients
(2) 77 patients
Age distribution💬
 158 Tuberous sclerosis [Neu] 💬
"Tuberous sclerosis complex"		 108 trials 
 54 / 40 / 52 / 18 💬 		 67 drugs 
 [ 17 drugs ] 		 35 genes 
 118 pathways 		(1) About 4,000~12,000 patients
(2) 925 patients
Age distribution💬
 159 Xeroderma pigmentosum [Neu] 💬
"XP", "XP-A", "XP-B", "XP-C", "XP-D", "XP-E", "XP-F", "XP-G", "XP-V"		 10 trials 
 1 / 7 / 1 / 0 💬 		 18 drugs 
 [ 5 drugs ] 		 5 genes 
 15 pathways 		(1) About 300~600 patients
(2) 86 patients
Age distribution💬
 160 Congenital ichthyosis [Skin] 💬
"Keratinopathic ichthyosis", "Epidermolytic ichthyosis", "Superficial epidermolytic ichthyosis", "Harlequin ichthyosis", "Autosomal recessive congenital ichthyosis", "Congenital Ichthyosiform Erythroderma", "Foliate ichthyosis", "Ichthyosis syndrome", "Netherton syndrome", "Sjogren-Larsson syndrome", "Sjögren-Larsson syndrome", "Keratitis-ichtyosis-deafness syndrome", "Dorfman-Chanarin syndrome", "Neutral lipid storage disease", "NLSD", "Multiple sulfatase deficiency", "Austin disease", "Recessive X-linked ichthyosis", "RXLI", "X-linked recessive ichthyosis", "Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature", "IBID", "Trichothiodystrophy", "Follicular ichthyosis", "Congenital hemidysplasia, ichthyosiform erythroderma or nevus, and limb defects syndrome", "CHILD syndrome", "Conradi-Hunermann-Happle syndrome", "Conradi-Hünermann-Happle syndrome", "CHHS"		 36 trials 
 20 / 17 / 11 / 5 💬 		 72 drugs 
 [ 21 drugs ] 		 18 genes 
 111 pathways 		(1) About 200 patients
(2) 90 patients
Age distribution💬
 161 Familial benign chronic pemphigus [Skin] 💬
"Benign familial pemphigus", "Hailey-Hailey disease"		 5 trials 
 2 / 2 / 0 / 0 💬 		 9 drugs 
 [ 4 drugs ] 		 2 genes 
 24 pathways 		(1) About 300 patients
(2) 57 patients
Age distribution💬
 162 Pemphigoid [Skin] 💬
"Bullous pemphigoid", "BP", "Epidermolysis bullosa acquisita", "Mucous membrane pemphigoid", "MMP", "Cicatricial pemphigoid"		 83 trials 
 24 / 37 / 24 / 8 💬 		 128 drugs 
 [ 51 drugs ] 		 33 genes 
 142 pathways 		(1) About 7,100 patients (Pemphigoid: About 6,850 patients、Epidermolysis bullosa acquisita: About 250 patients)
(2) 3,764 patients
Age distribution💬
 163 Idiopathic pure sudomotor failure [Skin] 💬
"Idiopathic acquired systemic anhidrosis", "Acquired idiopathic generalized anhidrosis", "AIGA", "Idiopathic segmental anhidrosis", "IPSF", "Sweat gland failure"		 -  -  - (1) About 100 patients~200 patients
(2) 551 patients
Age distribution💬
 164 Oculocutaneous albinism [Eye] 💬
"Hermansky-Pudlak syndrome", "Chediak-Higashi syndrome", "Chédiak-Higashi syndrome", "Griscelli syndrome", "Non-syndromic oculocutaneous albinism"		 15 trials 
 3 / 9 / 1 / 0 💬 		 57 drugs 
 [ 34 drugs ] 		 35 genes 
 139 pathways 		(1) About 5,000 patients (2,800~11,200 patients)
(2) 28 patients
Age distribution💬
 165 Pachydermoperiostosis [Chr] 💬
"PDP", "Early type pachydermoperiostosis", "Early type PDP", "Incomplete type pachydermoperiostosis", "Incomplete type PDP", "Complete type pachydermoperiostosis", "Complete type PDP"		 -  -  - (1) Less than 100 patients
(2) 19 patients
Age distribution💬
 166 Pseudoxanthoma elasticum [Skin] 💬
"PXE"		 15 trials 
 3 / 13 / 2 / 1 💬 		 27 drugs 
 [ 5 drugs ] 		 5 genes 
 28 pathways 		(1) About 300 patients
(2) 109 patients
Age distribution💬
 167 Marfan syndrome [Skin] 💬
 20 trials 
 15 / 6 / 12 / 4 💬 		 39 drugs 
 [ 10 drugs ] 		 10 genes 
 50 pathways 		(1) About 15,000~20,000 patients
(2) 1,081 patients
Age distribution💬
 168 Ehlers-Danlos syndrome [Skin] 💬
"EDS", "Classic EDS", "Classical EDS", "cEDS", "Hypermobile Ehlers-Danlos syndrome", "Hypermobile EDS", "hEDS", "Classical-like Ehlers-Danlos syndrome", "Classical-like EDS", "clEDS", "Vascular Ehlers-Danlos syndrome", "Vascular EDS", "vEDS", "Kyphoscoliosis Ehlers-Danlos syndrome", "Kyphoscoliosis EDS", "kEDS", "Arthrochalasia Ehlers-Danlos syndrome", "Arthrochalasia EDS", "aEDS", "Dermatosparaxis Ehlers-Danlos syndrome", "Dermatosparaxis EDS", "dEDS", "D4ST1-deficient Ehlers-Danlos syndrome", "Dermatan 4-0-sulfotransferase 1-deficient EDS", "D4ST1-deficient EDS", "DDEDS"		 8 trials 
 0 / 1 / 2 / 2 💬 		 17 drugs 
 [ 9 drugs ] 		 9 genes 
 55 pathways 		(1) About 20,000 patients
(2) 179 patients
Age distribution💬
 169 Menkes disease [Met] 💬
 7 trials 
 2 / 2 / 1 / 0 💬 		 7 drugs 
 [ 4 drugs ] 		 9 genes 
 14 pathways 		(1) Less than 100 patients
(2) 1 patient
Age distribution💬
 170 Occipital horn syndrome [Skin] 💬
 2 trials 
 1 / 1 / 1 / 0 💬 		 4 drugs 
 [ 3 drugs ] 		 9 genes 
 14 pathways 		(1) Less than 100 patients
(2) 1 patient
Age distribution💬
 171 Wilson disease [Met] 💬
"WD"		 68 trials 
 38 / 23 / 32 / 14 💬 		 79 drugs 
 [ 17 drugs ] 		 3 genes 
 28 pathways 		(1) About 3,000 patients
(2) 715 patients
Age distribution💬
 172 Hypophosphatasia [Bone] 💬
 34 trials 
 13 / 20 / 4 / 5 💬 		 19 drugs 
 [ 4 drugs ] 		 3 genes 
 6 pathways 		(1) About 100~200 patients
(2) 26 patients
Age distribution💬
 173 VATER syndrome [Chr] 💬
"VATER association", "VACTERL association"		 -  -  - (1) About 500 patients
(2) 15 patients
Age distribution💬
 174 Nasu-Hakola disease [Chr] 💬
"Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy", "PLOSL"		 -  -  - (1) About 200 patients
(2) 4 patients
Age distribution💬
 175 Weaver syndrome [Chr] 💬
 -  -  - (1) Less than 100 patients
(2) -
 176 Coffin-Lowry syndrome [Chr] 💬
 -  -  - (1) One patient per tens of thousand population
(2) 5 patients
Age distribution💬
 177 Joubert syndrome related disorder [Neu] 💬
"Joubert syndrome and related disorder", "Joubert syndrome", "JSRD", "Arima syndrome", "Senior-Loken syndrome", "Senior-Løken syndrome", "COACH syndrome", "Orofaciodigital syndrome"		 1 trial 
 0 / 0 / 0 / 0 💬 		 1 drug 
 [ - ] 		 - (1) Less than 100 patients
(2) 11 patients
Age distribution💬
 178 Mowat-Wilson syndrome [Chr] 💬
 -  -  - (1) About 1,000 patients
(2) 13 patients
Age distribution💬
 179 Williams syndrome [Chr] 💬
 5 trials 
 0 / 0 / 0 / 2 💬 		 14 drugs 
 [ 8 drugs ] 		 9 genes 
 33 pathways 		(1) Occurrence: One patient per twenty thousand population
(2) 49 patients
Age distribution💬
 180 ATR-X syndrome [Chr] 💬
"Alpha-thalassemia mental retardation syndrome"		 -  -  - (1) Less than 100 patients
(2) 7 patients
Age distribution💬
 181 Crouzon syndrome [Chr] 💬
 -  -  - (1) [Disease ID 181-184 total] About 900 patients
(2) 19 patients
Age distribution💬
 182 Apert syndrome [Chr] 💬
 -  -  - (1) [Disease ID 181-184 total] About 900 patients
(2) 6 patients
Age distribution💬
 183 Pfeiffer syndrome [Chr] 💬
"Pfeiffer syndrome type 1", "Pfeiffer syndrome type 2", "Pfeiffer syndrome type 3"		 -  -  - (1) [Disease ID 181-184 total] About 900 patients
(2) 6 patients
Age distribution💬
 184 Antley-Bixler syndrome [Chr] 💬
 -  -  - (1) [Disease ID 181-184 total] About 900 patients
(2) 3 patients
Age distribution💬
 185 Coffin-Siris syndrome [Chr] 💬
 -  -  - (1) Less than 100 patients
(2) 4 patients
Age distribution💬
 186 Rothmund-Thomson syndrome [Chr] 💬
"RAPADILINO syndrome", "Baller-Gerold syndrome"		 1 trial 
 0 / 0 / 0 / 0 💬 		 2 drugs 
 [ 1 drug ] 		 - (1) Less than 100 patients
(2) 3 patients
Age distribution💬
 187 Kabuki syndrome [Chr] 💬
 3 trials 
 1 / 0 / 0 / 0 💬 		 8 drugs 
 [ 2 drugs ] 		 3 genes 
 15 pathways 		(1) About 3,000~4,000 patients
(2) 14 patients
Age distribution💬
 188 Polysplenia syndrome [Chr] 💬
 -  -  - (1) [Disease ID 188-189 total] About 2,000 patients
(2) 54 patients
Age distribution💬
 189 Asplenia syndrome [Chr] 💬
 -  -  - (1) [Disease ID 188-189 total] About 2,000 patients
(2) 84 patients
Age distribution💬
 190 Branchio-oto-renal syndrome [Hear] 💬
"BOR syndrome"		 -  -  - (1) About 300 patients
(2) 8 patients
Age distribution💬
 191 Werner syndrome [Chr] 💬
 3 trials 
 2 / 1 / 0 / 0 💬 		 4 drugs 
 [ 3 drugs ] 		 1 gene 
 5 pathways 		(1) About 2,000 patients
(2) 102 patients
Age distribution💬
 192 Cockayne syndrome [Chr] 💬
"CS"		 4 trials 
 1 / 3 / 0 / 0 💬 		 7 drugs 
 [ 3 drugs ] 		 1 gene 
 51 pathways 		(1) Less than 100 patients
(2) 5 patients
Age distribution💬
 193 Prader-Willi syndrome [Chr] 💬
 111 trials 
 32 / 42 / 48 / 13 💬 		 120 drugs 
 [ 30 drugs ] 		 51 genes 
 103 pathways 		(1) About 1,000 patients
(2) 172 patients
Age distribution💬
 194 Sotos syndrome [Chr] 💬
 -  -  - (1) About 2,500 patients
(2) 17 patients
Age distribution💬
 195 Noonan syndrome [Chr] 💬
 14 trials 
 0 / 3 / 6 / 0 💬 		 15 drugs 
 [ 5 drugs ] 		 2 genes 
 9 pathways 		(1) About 600 patients
(2) 45 patients
Age distribution💬
 196 Young-Simpson syndrome [Chr] 💬
 -  -  - (1) About 100 patients
(2) -
 197 1p36 deletion syndrome [Chr] 💬
 -  -  - (1) About 100 patients
(2) 8 patients
Age distribution💬
 198 4p deletion syndrome [Chr] 💬
"4p-syndrome"		 -  -  - (1) Less than about 1,000 patients
(2) 7 patients
Age distribution💬
 199 5p deletion syndrome [Chr] 💬
"5p-syndrome"		 -  -  - (1) Less than about 1,000 patients (One per fifty thousand born, probably less than 1,000 patients estimated)
(2) 6 patients
Age distribution💬
 200 Paternal uniparental disomy of chromosome 14 [Chr] 💬
"No. 14 chromosome father disomy syndrome", "Kagami-Ogata syndrome"		 -  -  - (1) Less than 100 patients
(2) 6 patients
Age distribution💬
 201 Angelman syndrome [Neu] 💬
 24 trials 
 9 / 7 / 5 / 0 💬 		 35 drugs 
 [ 9 drugs ] 		 22 genes 
 20 pathways 		(1) 500~1,000 patients
(2) 30 patients
Age distribution💬
 202 Smith-Magenis syndrome [Chr] 💬
 10 trials 
 7 / 5 / 3 / 1 💬 		 12 drugs 
 [ 5 drugs ] 		 4 genes 
 7 pathways 		(1) Less than 100 patients
(2) 1 patient
Age distribution💬
 203 22q11.2 deletion syndrome [Chr] 💬
 5 trials 
 2 / 1 / 1 / 0 💬 		 7 drugs 
 [ 1 drug ] 		 14 genes 
 23 pathways 		(1) About 4,500 patients
(2) 69 patients
Age distribution💬
 204 Emanuel syndrome [Chr] 💬
"Derivative 22 syndrome", "Partial trisomy (11", "22)"		 -  -  - (1) Less than 100 patients
(2) 5 patients
Age distribution💬
 205 Fragile X syndrome related disease [Chr] 💬
"Fragile X-associated tremor/ataxia syndrome", "FXTAS", "Fragile X-associated tremor", "Ataxia syndrome"		 5 trials 
 0 / 2 / 1 / 0 💬 		 13 drugs 
 [ 7 drugs ] 		 25 genes 
 29 pathways 		(1) [Disease ID 205-206 total] Less than 100 patients
(2) 6 patients
Age distribution💬
 206 Fragile X syndrome [Chr] 💬
 104 trials 
 33 / 49 / 16 / 8 💬 		 87 drugs 
 [ 32 drugs ] 		 54 genes 
 79 pathways 		(1) [Disease ID 205-206 total] Less than 100 patients
(2) 2 patients
Age distribution💬
 207 Persistent truncus arteriosus [Card] 💬
"Persistent truncus arteriosus type I", "Persistent truncus arteriosus type II", "Persistent truncus arteriosus type III", "Persistent truncus arteriosus type IV"		 -  -  - (1) About 500 patients
(2) 32 patients
Age distribution💬
 208 Corrected transposition of great arteries [Card] 💬
 -  -  - (1) [Disease ID 208-209 total] About 900 patients
(2) 186 patients
Age distribution💬
 209 Complete transposition of great vessel [Card] 💬
"Complete transposition of great arteries", "Complete TGA", "Complete transposition of great vessel type I", "Complete transposition of great arteries type I", "Complete TGA type I", "Complete transposition of great vessel type II", "Complete transposition of great arteries type II", "Complete TGA type II", "Complete transposition of great vessel type III", "Complete transposition of great arteries type III", "Complete TGA type III", "Complete transposition of great vessel type IV", "Complete transposition of great arteries type IV", "Complete TGA type IV"		 -  -  - (1) [Disease ID 208-209 total] About 900 patients
(2) 244 patients
Age distribution💬
 210 Single Ventricle [Card] 💬
"SV", "Single ventricle heart defect", "Univentricular heart", "UVH", "Single ventricular circulation syndrome"		 49 trials 
 22 / 14 / 23 / 6 💬 		 53 drugs 
 [ 23 drugs ] 		 32 genes 
 67 pathways 		(1) [Disease ID 210-213 total] About 3,500 patients (Patients of single ventricle heart defects)
(2) 425 patients
Age distribution💬
 211 Hypoplastic left heart syndrome [Card] 💬
"HLHS"		 21 trials 
 11 / 10 / 0 / 0 💬 		 29 drugs 
 [ 9 drugs ] 		 5 genes 
 14 pathways 		(1) [Disease ID 210-213 total] About 3,500 patients (Patients of single ventricle heart defects)
(2) 54 patients
Age distribution💬
 212 Tricuspid atresia [Card] 💬
"TA"		 6 trials 
 2 / 2 / 0 / 0 💬 		 8 drugs 
 [ 7 drugs ] 		 8 genes 
 12 pathways 		(1) [Disease ID 210-213 total] About 3,500 patients (Patients of single ventricle heart defects)
(2) 183 patients
Age distribution💬
 213 Pulmonary atresia without ventricular septum defect [Card] 💬
"Pulmonary atresia with intact ventricular septum", "Pulmonary atresia"		 -  -  - (1) [Disease ID 210-213 total] About 3,500 patients (Patients of single ventricle heart defects)
(2) 140 patients
Age distribution💬
 214 Pulmonary atresia with ventricular septum defect [Card] 💬
"PAVSD", "Pulmonary atresia with ventricular septal defect", "Pulmonary atresia", "Tetralogy of Fallot with pulmonary atresia", "TFPA"		 2 trials 
 0 / 0 / 0 / 0 💬 		 4 drugs 
 [ 4 drugs ] 		 - (1) [Disease ID 214-216 total] About 5,500 patients (Patients of tetralogy of Fallot related diseases)
(2) 108 patients
Age distribution💬
 215 Tetralogy of Fallot [Card] 💬
"Fallot tetralogy"		 22 trials 
 5 / 4 / 1 / 1 💬 		 48 drugs 
 [ 19 drugs ] 		 18 genes 
 49 pathways 		(1) [Disease ID 214-216 total] About 5,500 patients (Patients of tetralogy of Fallot related diseases)
(2) 689 patients
Age distribution💬
 216 Double outlet right ventricle [Card] 💬
 -  -  - (1) [Disease ID 214-216 total] About 5,500 patients (Patients of tetralogy of Fallot related diseases)
(2) 256 patients
Age distribution💬
 217 Ebstein disease [Card] 💬
"Ebstein malformation"		 -  -  - (1) About 300 patients
(2) 130 patients
Age distribution💬
 218 Alport syndrome [Kid] 💬
"X chromosome-linked Alport syndrome", "Autosomal recessive Alport syndrome"		 26 trials 
 11 / 17 / 8 / 2 💬 		 33 drugs 
 [ 13 drugs ] 		 6 genes 
 29 pathways 		(1) About 1,200 patients
(2) 223 patients
Age distribution💬
 219 Galloway-Mowat syndrome [Kid] 💬
 -  -  - (1) About 200 patients
(2) 1 patient
Age distribution💬
 220 Rapidly progressive glomerulonephritis [Kid] 💬
 2 trials 
 0 / 1 / 2 / 0 💬 		 5 drugs 
 [ 2 drugs ] 		 1 gene 
 1 pathway 		(1) About 3,800~5,800 patients in total estimated
(2) 1,147 patients
Age distribution💬
 221 Anti-glomerular basement membrane disease [Kid] 💬
 1 trial 
 0 / 1 / 0 / 0 💬 		 3 drugs 
 [ 1 drug ] 		 - (1) About 200~400 patients
(2) 343 patients
Age distribution💬
 222 Primary nephrotic syndrome [Kid] 💬
"Minimal change nephrotic syndrome", "MCNS", "Membranous nephropathy", "Focal segmental glomerulosclerosis", "FSGS", "Membranoproliferative glomerulonephritis", "MPGN"		 285 trials 
 93 / 128 / 63 / 39 💬 		 285 drugs 
 [ 108 drugs ] 		 62 genes 
 191 pathways 		(1) About 16,000 patients
(2) 12,221 patients
Age distribution💬
 223 Primary membranoproliferative glomerulonephritis [Kid] 💬
"Primary MPGN", "Primary membranoproliferative glomerulonephritis type I", "Primary MPGN I", "Primary membranoproliferative glomerulonephritis type III", "Primary MPGN III", "Mesangial proliferative primary membranoproliferative glomerulonephritis type I", "Mesangial proliferative primary MPGN I", "Primary membranoproliferative glomerulonephritis type I, chronic / nest-like type", "Primary MPGN I, chronic / nest-like type", "Primary membranoproliferative glomerulonephritis type I, acute / nest-like type", "Primary MPGN I, acute / nest-like type", "Primary membranoproliferative glomerulonephritis type I, chronic / diffuse type", "Primary MPGN I, chronic / diffuse type", "Primary membranoproliferative glomerulonephritis type I, non-lobed type", "Primary MPGN I, non-lobed type", "Primary membranoproliferative glomerulonephritis type I, acute / diffuse type", "Primary MPGN I, acute / diffuse type", "Primary membranoproliferative glomerulonephritis type I, intraductal proliferation type", "Primary MPGN I, intraductal proliferation type", "Primary membranoproliferative glomerulonephritis type I, lobation type", "Primary MPGN I, lobation type", "Primary membranoproliferative glomerulonephritis type I, end-of-life type", "Primary MPGN I, end-of-life type"		 -  -  - (1) About 1,000 patients
(2) 367 patients
Age distribution💬
 224 Purpura nephritis [Kid] 💬
 13 trials 
 2 / 3 / 0 / 2 💬 		 42 drugs 
 [ 20 drugs ] 		 15 genes 
 57 pathways 		(1) 400~640 cases / year
(2) 1,023 patients
Age distribution💬
 225 Congenital nephrogenic diabetes insipidus [Kid] 💬
"Hereditary nephrogenic diabetes insipidus", "Nephrogenic diabetes insipidus"		 15 trials 
 7 / 5 / 1 / 3 💬 		 48 drugs 
 [ 18 drugs ] 		 31 genes 
 65 pathways 		(1) About 200 patients
(2) 45 patients
Age distribution💬
 226 Interstitial cystitis with Hunners ulcer [Kid] 💬
"Interstitial cystitis"		 143 trials 
 50 / 55 / 25 / 17 💬 		 171 drugs 
 [ 56 drugs ] 		 64 genes 
 145 pathways 		(1) About 2,000 patients
(2) 885 patients
Age distribution💬
 227 Osler disease [Chr] 💬
"Hereditary hemorrhagic telangiectasia", "Osler-Weber-Rendu disease"		 54 trials 
 21 / 31 / 14 / 5 💬 		 73 drugs 
 [ 21 drugs ] 		 23 genes 
 136 pathways 		(1) About 10,000 patients
(2) 837 patients
Age distribution💬
 228 Bronchiolitis obliterans [Resp] 💬
"Obliterating bronchiolitis"		 96 trials 
 49 / 38 / 35 / 16 💬 		 125 drugs 
 [ 34 drugs ] 		 33 genes 
 155 pathways 		(1) About 300~500 patients
(2) 35 patients
Age distribution💬
 229 Autoimmune pulmonary alveolar proteinosis [Resp] 💬
"Congenital pulmonary alveolar proteinosis", "Hereditary pulmonary alveolar proteinosis", "Pulmonary alveolar proteinosis", "PAP", "Autoimmune PAP", "Congenital PAP"		 43 trials 
 32 / 21 / 26 / 5 💬 		 34 drugs 
 [ 8 drugs ] 		 3 genes 
 14 pathways 		(1) About 900 patients (Autoimmune and congenital pulmonary alveolar proteinoses)
(2) 212 patients
Age distribution💬
 230 Alveolar hypoventilation syndrome [Resp] 💬
"AHS", "Hypoventilation syndrome", "Obesity hypoventilation syndrome", "OHS", "Congenital central hypoventilation syndrome", "CCHS", "Idiopathic central alveolar hypoventilation", "ICAH"		 8 trials 
 0 / 2 / 2 / 0 💬 		 11 drugs 
 [ 5 drugs ] 		 18 genes 
 28 pathways 		(1) About 3,000 patients
(2) 145 patients
Age distribution💬
 231 Alpha-1-antitrypsin deficiency [Resp] 💬
"AATD"		 89 trials 
 43 / 58 / 27 / 8 💬 		 89 drugs 
 [ 16 drugs ] 		 35 genes 
 47 pathways 		(1) Less than 100 patients
(2) 16 patients
Age distribution💬
 232 Carney complex [Chr] 💬
 1 trial 
 0 / 1 / 0 / 0 💬 		 3 drugs 
 [ 1 drug ] 		 1 gene 
 29 pathways 		(1) Less than 100 patients
(2) 23 patients
Age distribution💬
 233 Wolfram syndrome [Endo] 💬
"Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome", "DIDMOAD syndrome"		 9 trials 
 6 / 8 / 2 / 1 💬 		 15 drugs 
 [ 7 drugs ] 		 11 genes 
 41 pathways 		(1) About 200 patients
(2) 12 patients
Age distribution💬
 234 Peroxisomal disease (except Adrenoleukodystrophy) [Met] 💬
"Peroxisomal disease", "Peroxisomal disorder", "Peroxisome biogenesis disorder", "PEX gene disorder", "Zellweger syndrome", "Neonatal adrenoleukodystrophy", "Infantile Refsum disease", "Rhizomelic chondrodysplasia punctata type 1", "RCDP type 1", "RCDP1", "Peroxisomal beta-oxidation enzyme deficiency", "Acyl-CoA oxidase deficiency", "AOX deficiency", "D-Bifunctional protein deficiency", "DBP deficiency", "Sterol carrier protein X deficiency", "SCPx deficiency", "2-methylacyl-CoA racemase deficiency", "Alpha-methylacyl-CoA racemase deficiency", "AMACR deficiency", "Plasmalogen biosynthesis enzyme deficiency", "Rhizomelic chondrodysplasia punctata type 2", "RCDP type 2", "RCDP2", "Rhizomelic chondrodysplasia punctata type 3", "RCDP type 3", "RCDP3", "Refsum disease", "Primary hyperoxaluria type 1", "PH1", "Acatalasemia", "Acatalasia", "Takahara disease", "Contiguous ABCD1/DXS1357E deletion syndrome", "CADDS"		 41 trials 
 30 / 22 / 19 / 5 💬 		 37 drugs 
 [ 12 drugs ] 		 13 genes 
 44 pathways 		(1) Less than 100 patients
(2) -
 235 Hypoparathyroidism [Endo] 💬
"Accessory thyroid hypergasia disease"		 88 trials 
 21 / 20 / 36 / 17 💬 		 128 drugs 
 [ 25 drugs ] 		 5 genes 
 7 pathways 		(1) About 900 patients
(2) 302 patients
Age distribution💬
 236 Pseudohypoparathyroidism [Endo] 💬
"PHP", "PHP1a", "PHP1b", "PHP1c", "PHP2"		 6 trials 
 0 / 4 / 0 / 1 💬 		 4 drugs 
 [ 2 drugs ] 		 20 genes 
 28 pathways 		(1) About 400 patients
(2) 116 patients
Age distribution💬
 237 ACTH unresponsiveness [Endo] 💬
"Adrenocorticotropic hormone unresponsiveness", "Adrenocorticotropic hormone insensitivity", "Triple A syndrome", "Allgrove syndrome"		 -  -  - (1) Less than 100 patients
(2) 14 patients
Age distribution💬
 238 Vitamin D-resistant rickets [Bone] 💬
"VDRR", "Vitamin D-resistant osteomalacia", "VDRO", "FGF23-related hypophosphatemic disease", "FGF23-related hypophosphatemia", "Hypophosphatemic rickets/osteomalacia", "Hypophosphatemic rickets", "Hypophosphatemic osteomalacia", "Acquired vitamin D-resistant osteomalacia", "Acquired VDRO", "Tumor-induced osteomalacia", "TIO"		 29 trials 
 6 / 6 / 8 / 3 💬 		 25 drugs 
 [ 11 drugs ] 		 4 genes 
 20 pathways 		(1) 117 cases per year in Japan (95％ CI 75-160) estimated by the national survey of the MHLW research group of abnormalities in hormonal signaling mechanisms
(2) 396 patients
Age distribution💬
 239 Vitamin D-dependent rickets [Endo] 💬
"Vitamin D-dependent osteomalacia", "VDDR", "Vitamin D-dependent rickets type 1", "VDDR1", "Vitamin D-dependent rickets type 2", "VDDR2"		 -  -  - (1) Less than 100 patients
(2) 5 patients
Age distribution💬
 240 Phenylketonuria [Met] 💬
"PKU", "Phenylalanine hydroxylase deficiency", "PAH deficiency", "Tetrahydrobiopterin deficiency", "BH4 deficiency", "BH4 reactive hyper pheemia"		 138 trials 
 78 / 30 / 36 / 26 💬 		 106 drugs 
 [ 11 drugs ] 		 1 gene 
 5 pathways 		(1) About 500 patients
(2) 264 patients
Age distribution💬
 241 Hypertyrosinemia type I [Met] 💬
"Tyrosinemia type I", "Tyrosinemia I", "Hereditary tyrosinemia, Type I", "Fumarylacetoacetate hydrolase deficiency", "FAH deficiency", "Acute hypertyrosinemia type I", "Acute tyrosinemia type I", "Acute tyrosinemia I", "Subacute hypertyrosinemia type I", "Subacute tyrosinemia type I", "Subacute tyrosinemia I", "Chronic hypertyrosinemia type I", "Chronic tyrosinemia type I", "Chronic tyrosinemia I"		 14 trials 
 4 / 1 / 1 / 1 💬 		 7 drugs 
 [ 1 drug ] 		 1 gene 
 5 pathways 		(1) [Disease ID 241-243 total] Less than 100 patients
(2) 2 patients
Age distribution💬
 242 Hypertyrosinemia type II [Met] 💬
"Tyrosinemia type II", "Tyrosinemia II", "Hereditary tyrosinemia, Type II", "Acute hypertyrosinemia type II", "Acute tyrosinemia type II", "Acute tyrosinemia II", "Subacute hypertyrosinemia type II", "Subacute tyrosinemia type II", "Subacute tyrosinemia II", "Chronic hypertyrosinemia type II", "Chronic tyrosinemia type II", "Chronic tyrosinemia II"		 -  -  - (1) [Disease ID 241-243 total] Less than 100 patients
(2) -
 243 Hypertyrosinemia type III [Met] 💬
"Tyrosinemia type III", "Tyrosinemia III", "Hereditary tyrosinemia, Type III", "Acute hypertyrosinemia type III", "Acute tyrosinemia type III", "Acute tyrosinemia III", "Subacute hypertyrosinemia type III", "Subacute tyrosinemia type III", "Subacute tyrosinemia III", "Chronic hypertyrosinemia type III", "Chronic tyrosinemia type III", "Chronic tyrosinemia III"		 -  -  - (1) [Disease ID 241-243 total] Less than 100 patients
(2) 1 patient
Age distribution💬
 244 Maple syrup urine disease [Met] 💬
"MSUD"		 1 trial 
 0 / 1 / 1 / 0 💬 		 1 drug 
 [ 1 drug ] 		 - (1) About 100 patients
(2) 13 patients
Age distribution💬
 245 Propionic acidemia [Met] 💬
 13 trials 
 5 / 7 / 1 / 0 💬 		 17 drugs 
 [ 3 drugs ] 		 1 gene 
 6 pathways 		(1) About 300 patients
(2) 15 patients
Age distribution💬
 246 Methylmalonic acidemia [Met] 💬
 19 trials 
 11 / 12 / 2 / 1 💬 		 26 drugs 
 [ 3 drugs ] 		 17 genes 
 23 pathways 		(1) About 300 patients
(2) 30 patients
Age distribution💬
 247 Isovaleric acidemia [Met] 💬
"Isovaleric aciduria", "Isovaleric acid CoA dehydrogenase deficiency"		 -  -  - (1) Less than 100 patients
(2) 3 patients
Age distribution💬
 248 Glucose transporter type 1 deficiency [Met] 💬
"GLUT1 deficiency"		 30 trials 
 43 / 21 / 9 / 8 💬 		 9 drugs 
 [ 1 drug ] 		 - (1) Less than 100 patients
(2) 14 patients
Age distribution💬
 249 Glutaric acidemia type 1 [Met] 💬
 -  -  - (1) Less than 100 patients
(2) 4 patients
Age distribution💬
 250 Glutaric acidemia type 2 [Met] 💬
"Multiple acyl-CoA dehydrogenase deficiency", "Multiple acyl-CoA dehydrogenation deficiency", "MADD", "Glutaric acidemia type 2, neonatal onset type", "Multiple acyl-CoA dehydrogenase deficiency, neonatal onset type", "Multiple acyl-CoA dehydrogenation deficiency, neonatal onset type", "MADD, neonatal onset type", "Glutaric acidemia type 2, infant/school child onset type", "Multiple acyl-CoA dehydrogenase deficiency, infant/school child onset type", "Multiple acyl-CoA dehydrogenation deficiency, infant/school child onset type", "MADD, infant/school child onset type", "Glutaric acidemia type 2, adult-onset type", "Multiple acyl-CoA dehydrogenase deficiency, adult-onset type", "Multiple acyl-CoA dehydrogenation deficiency, adult-onset type", "MADD, adult-onset type"		 -  -  - (1) Less than 100 patients
(2) 7 patients
Age distribution💬
 251 Urea cycle disorder [Met] 💬
"N-acetylglutamate synthase deficiency", "NAGS deficiency", "Carbamoyl phosphate synthetase I deficiency", "CPS1 deficiency", "Ornithine transcarbamylase deficiency", "OTC deficiency", "Classic citrullinemia", "Citrullinemia type I", "Argininosuccinic aciduria", "Argininemia", "Hiperornitinemia-hiperamonemia-homocitrulinuria syndrome", "HHH syndrome"		 48 trials 
 30 / 28 / 2 / 5 💬 		 52 drugs 
 [ 13 drugs ] 		 4 genes 
 29 pathways 		(1) OTC deficiency: About 500 patients; CPSI deficiency: About 100 patients; Argininosuccinic aciduria: About 100 patients; Other urea cycle disorders: Less than 100 patients;
(2) 92 patients
Age distribution💬
 252 Lysinuric protein intolerance [Met] 💬
 -  -  - (1) Less than 100 patients
(2) 27 patients
Age distribution💬
 253 Congenital folate malabsorption [Met] 💬
"Hereditary folate malabsorption", "Folate malabsorption"		 -  -  - (1) Less than 100 patients
(2) -
 254 Porphyria [Met] 💬
"Acute intermittent porphyria", "AIP", "Hereditary coproporphyria", "HCP", "Variegate porphyria", "VP", "Erythropoietic protoporphyria", "EPP", "Porphyria cutanea tarda", "PCT", "Congenital erythropoietic porphyria", "CEP", "X-linked dominant protoporphyria", "XLDP", "Hepatoerythropoietic porphyria", "HEP"		 70 trials 
 18 / 16 / 36 / 3 💬 		 54 drugs 
 [ 19 drugs ] 		 19 genes 
 35 pathways 		(1) About 200 patients
(2) 47 patients
Age distribution💬
 255 Multiple carboxylase deficiency [Met] 💬
"Holocarboxylase synthetase deficiency", "HCS deficiency", "Biotinidase deficiency"		 1 trial 
 1 / 1 / 0 / 0 💬 		 1 drug 
 [ - ] 		 - (1) HCS deficiency: 1 / 1,000,000 occurrence in Japan; Biotinidase deficiency: a few cases reported;
(2) 6 patients
Age distribution💬
 256 Muscle glycogenosis [Met] 💬
"Muscular glycogenosis", "Muscle glycogen storage disease", "Muscular glycogen storage disease", "Glycogen storage disease type 0", "GSD0", "Glycogen synthase deficiency", "Glycogen storage disease type II", "GSDII", "Pompe disease", "Alpha-1,4-glucosidase acid deficiency", "Glycogen storage disease type III", "GSDIII", "Cori disease", "Forbes disease", "Glycogen debranching enzyme deficiency", "Glycogen storage disease type IV", "GSDIV", "Andersen disease", "Glycogen-branching enzyme deficiency", "GBED", "Glycogen storage disease type V", "GSDV", "McArdle disease", "Muscle phosphorylase deficiency", "Muscular phosphorylase deficiency", "Glycogen storage disease type VII", "GSDVII", "Tarui disease", "Phosphofructokinase deficiency", "PFK deficiency", "Glycogen storage disease type IXd", "GSDIXd", "Phosphorylase kinase deficiency", "Phosphoglycerate kinase deficiency", "PGK deficiency", "Glycogen storage disease type X", "GSDX", "Phosphoglycerate mutase deficiency", "Glycogen storage diseass type XI", "GSDXI", "Kanno disease", "Lactate dehydrogenase deficiency", "Glycogen storage diseass type XII", "GSDXII", "Aldolase A deficiency", "Glycogen storage diseass type XIII", "GSDXIII", "Beta-enolase deficiency", "Glycogen storage diseass type XIV", "GSDXIV", "Phosphoglucomutase deficiency", "Glycogen storage diseass type XV", "GSDXV", "Glycogenin 1 deficiency"		 180 trials 
 90 / 59 / 68 / 35 💬 		 153 drugs 
 [ 30 drugs ] 		 31 genes 
 134 pathways 		(1) About 3,000~6,000 patients estimated
(2) 22 patients
Age distribution💬
 257 Hepatic glycogenosis [Met] 💬
"Liver glycogenosis", "Hepatic glycogen storage disease", "Liver glycogen storage disease", "Glycogen storage disease type I", "GSDI", "von Gierke disease", "Glucose-6-phosphatase deficiency", "G6Pase deficiency", "Glycogen storage disease type III", "GSDIII", "Cori disease", "Forbes disease", "Glycogen debranching enzyme deficiency", "Glycogen storage disease type IV", "GSDIV", "Andersen disease", "Glycogen-branching enzyme deficiency", "GBED", "Adult polyglucosan body disease", "Glycogen storage disease type VI", "GSDVI", "Hers disease", "Hepatic phosphorylase deficiency", "Liver phosphorylase deficiency", "Glycogen storage disease type IX", "GSDIX", "Phosphorylase kinase deficiency"		 14 trials 
 4 / 7 / 0 / 0 💬 		 28 drugs 
 [ 7 drugs ] 		 3 genes 
 8 pathways 		(1) About 1,200 patients
(2) 101 patients
Age distribution💬
 258 Galactose-1-phosphate uridylyltransferase deficiency [Met] 💬
"Galactose-1-phosphate uridyltransferase deficiency", "Galactosemia type 1", "GALT deficiency"		 -  -  - (1) Less than 100 patients
(2) 2 patients
Age distribution💬
 259 Lecithin-cholesterol acyltransferase deficiency [Met] 💬
"LCAT deficiency", "Classical lecithin-cholesterol acyltransferase deficiency", "Classical LCAT deficiency", "Partial lecithin-cholesterol acyltransferase deficiency", "Partial LCAT deficiency", "Fish-eye disease"		 1 trial 
 0 / 0 / 0 / 0 💬 		 2 drugs 
 [ 1 drug ] 		 - (1) Less than 100 patients
(2) 4 patients
Age distribution💬
 260 Sitosterolemia [Met] 💬
 13 trials 
 0 / 1 / 5 / 0 💬 		 13 drugs 
 [ 4 drugs ] 		 1 gene 
 1 pathway 		(1) Less than 100 patients
(2) 24 patients
Age distribution💬
 261 Tangier disease [Met] 💬
 1 trial 
 0 / 0 / 0 / 0 💬 		 2 drugs 
 [ 1 drug ] 		 - (1) Less than 100 patients
(2) 9 patients
Age distribution💬
 262 Primary hyperchylomicronemia [Met] 💬
 -  -  - (1) About 300 patients
(2) 46 patients
Age distribution💬
 263 Cerebrotendinous xanthomatosis [Met] 💬
"27-hydroxylase deficiency", "CYP27 deficiency"		 5 trials 
 0 / 1 / 2 / 0 💬 		 10 drugs 
 [ 2 drugs ] 		 2 genes 
 4 pathways 		(1) Less than 100 patients
(2) 48 patients
Age distribution💬
 264 Abetalipoproteinemia [Met] 💬
"Microsomal triglyceride transfer protein deficiency", "MTP deficiency"		 -  -  - (1) Less than 100 patients (Only a few pedigrees in Japan since the first report in 1,983)
(2) 4 patients
Age distribution💬
 265 Lipodystrophy [Met] 💬
"Generalized congenital lipodystrophy", "Berardinelli-Seip syndrome", "Familial partial lipodystrophy", "Dunnigan-type familial partial lipodystrophy", "Kobbering-type familial partial lipodystrophy", "Acquired generalized lipodystrophy", "Lawrence syndrome", "Partial acquired lipodystrophy", "Barraquer-Simons syndrome"		 116 trials 
 33 / 34 / 21 / 31 💬 		 170 drugs 
 [ 61 drugs ] 		 26 genes 
 97 pathways 		(1) About 100 patients
(2) 33 patients
Age distribution💬
 266 Familial mediterranean fever [Imm] 💬
 28 trials 
 1 / 8 / 10 / 1 💬 		 24 drugs 
 [ 6 drugs ] 		 14 genes 
 59 pathways 		(1) About 300 patients
(2) 530 patients
Age distribution💬
 267 Hyper-IgD syndrome [Imm] 💬
"HIDS", "Mevalonate kinase deffiency", "Hyperimmunoglobulinemia D and periodic fever syndrome"		 11 trials 
 0 / 2 / 9 / 0 💬 		 6 drugs 
 [ 1 drug ] 		 1 gene 
 44 pathways 		(1) Less than 100 patients
(2) 2 patients
Age distribution💬
 268 Nakajo-Nishimura syndrome [Imm] 💬
"Autoinflammation, lipodystrophy, and dermatosis syndrome", "CANDLE syndrome", "JMP syndrome", "Nakajo syndrome"		 1 trial 
 0 / 1 / 1 / 0 💬 		 1 drug 
 [ 1 drug ] 		 2 genes 
 35 pathways 		(1) Less than 100 patients
(2) 7 patients
Age distribution💬
 269 Pyogenic arthritis [Imm] 💬
"Pyoderma gangrenosum", "Acne syndrome", "PAPA syndrome"		 24 trials 
 7 / 14 / 7 / 2 💬 		 30 drugs 
 [ 12 drugs ] 		 15 genes 
 105 pathways 		(1) Less than 100 patients
(2) 7 patients
Age distribution💬
 270 Chronic recurrent multifocal osteomyelitis [Bone] 💬
 1 trial 
 0 / 0 / 0 / 0 💬 		 10 drugs 
 [ 9 drugs ] 		 6 genes 
 73 pathways 		(1) Less than 100 patients
(2) 102 patients
Age distribution💬
 271 Ankylosing spondylitis [Bone] 💬
"Spondylarthritis ankylopoietica"		 563 trials 
 236 / 141 / 233 / 110 💬 		 372 drugs 
 [ 72 drugs ] 		 41 genes 
 145 pathways 		(1) About 4,500 patients
(2) 4,552 patients
Age distribution💬
 272 Fibrodysplasia ossificans progressiva [Bone] 💬
"FOP"		 40 trials 
 23 / 28 / 14 / 4 💬 		 36 drugs 
 [ 6 drugs ] 		 27 genes 
 95 pathways 		(1) Less than 100 patients
(2) 25 patients
Age distribution💬
 273 Congenital scoliosis with rib anomaly [Bone] 💬
"Congenital scoliosis"		 -  -  - (1) Less than about 2,000 patients (Children under 11)
(2) 21 patients
Age distribution💬
 274 Osteogenesis Imperfecta [Bone] 💬
 87 trials 
 28 / 21 / 29 / 12 💬 		 103 drugs 
 [ 20 drugs ] 		 14 genes 
 76 pathways 		(1) About 6,000 patients
(2) 121 patients
Age distribution💬
 275 Thanatophoric dysplasia [Bone] 💬
 -  -  - (1) Less than 100 patients
(2) 5 patients
Age distribution💬
 276 Achondroplasia [Bone] 💬
 46 trials 
 27 / 35 / 12 / 5 💬 		 29 drugs 
 [ 6 drugs ] 		 5 genes 
 30 pathways 		(1) 6,000 patients nationwide (estimated by frequency of occurrence)
(2) 88 patients
Age distribution💬
 277 Lymphangiomatosis [Resp] 💬
"Generalized lymphatic anomaly", "Gorham disease", "Gorham-Stout disease", "Diffuse lymphangiomatosis", "Mass osteolysis"		 6 trials 
 2 / 2 / 1 / 0 💬 		 2 drugs 
 [ 2 drugs ] 		 1 gene 
 51 pathways 		(1) About 100 patients (estimated by the national survey of the research group)
(2) 56 patients
Age distribution💬
 278 Huge lymphatic malformation with cervicofacial lesion [Resp] 💬
"Huge lymphatic malformation", "Lymphatic malformation"		 22 trials 
 13 / 13 / 4 / 4 💬 		 27 drugs 
 [ 7 drugs ] 		 5 genes 
 63 pathways 		(1) About 600 patients
(2) 17 patients
Age distribution💬
 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion [Card] 💬
oral and pharyngeal diffuse lesion", "Huge venous malformation", "Venous malformation"		 14 trials 
 2 / 6 / 1 / 2 💬 		 24 drugs 
 [ 9 drugs ] 		 3 genes 
 105 pathways 		(1) About 200 patients
(2) 47 patients
Age distribution💬
 280 Huge arteriovenous malformation with cervicofacial or limb lesion [Card] 💬
"Huge arteriovenous malformation", "Arteriovenous malformation"		 25 trials 
 14 / 7 / 2 / 6 💬 		 29 drugs 
 [ 15 drugs ] 		 14 genes 
 153 pathways 		(1) About 700 patients
(2) 104 patients
Age distribution💬
 281 Klippel-Trenaunay-Weber syndrome [Card] 💬
"Klippel-Trenauney-Weber syndrome", "Klippel-Trenaunay syndrome", "Klippel-Trenauney syndrome", "KTS", "Parkes Weber syndrome", "PWS"		 1 trial 
 0 / 0 / 0 / 0 💬 		 1 drug 
 [ 1 drug ] 		 1 gene 
 51 pathways 		(1) About 3,000 patients
(2) 239 patients
Age distribution💬
 282 Congenital dyserythropoietic anemia [Hem] 💬
"CDA"		 1 trial 
 0 / 0 / 0 / 1 💬 		 1 drug 
 [ 1 drug ] 		 2 genes 
 4 pathways 		(1) Less than 100 patients
(2) 11 patients
Age distribution💬
 283 Acquired pure red cell aplasia [Hem] 💬
"Pure red cell aplasia"		 18 trials 
 7 / 12 / 2 / 5 💬 		 42 drugs 
 [ 22 drugs ] 		 19 genes 
 98 pathways 		(1) Incidence per year: 0.3 patients per one million population
(2) 829 patients
Age distribution💬
 284 Diamond-Blackfan anemia [Hem] 💬
 37 trials 
 18 / 26 / 4 / 2 💬 		 110 drugs 
 [ 34 drugs ] 		 23 genes 
 124 pathways 		(1) About 200 patients
(2) 23 patients
Age distribution💬
 285 Fanconi anemia [Hem] 💬
 59 trials 
 28 / 40 / 3 / 1 💬 		 118 drugs 
 [ 32 drugs ] 		 31 genes 
 155 pathways 		(1) About 200 patients
(2) 13 patients
Age distribution💬
 286 Hereditary sideroblastic anemia [Hem] 💬
"Congenital sideroblastic anemia", "Sideroblastic anemia"		 7 trials 
 5 / 2 / 1 / 1 💬 		 23 drugs 
 [ 10 drugs ] 		 8 genes 
 42 pathways 		(1) Less than 100 patients
(2) 13 patients
Age distribution💬
 287 Epstein syndrome [Chr] 💬
 -  -  - (1) About 200 patients
(2) 12 patients
Age distribution💬
 288 Autoimmune acquired coagulation factor deficiency [Imm] 💬
"Coagulation factor deficiency", "Factor XIII deficiency", "Factor VIII deficiency", "Acquired hemophilia A", "VWF deficiency", "von Willebrand Disease", "VWD", "Factor V deficiency", "Factor X deficiency"		 205 trials 
 54 / 31 / 93 / 29 💬 		 238 drugs 
 [ 31 drugs ] 		 18 genes 
 26 pathways 		(1) About 700 patients
(2) 414 patients
Age distribution💬
 289 Cronkhite-Canada syndrome [Gast] 💬
 -  -  - (1) About 500 patients
(2) 189 patients
Age distribution💬
 290 Chronic nonspecific multiple ulcers of the small intestine [Gast] 💬
"Nonspecific multiple ulcers in the small intestine"		 1 trial 
 1 / 1 / 0 / 0 💬 		 1 drug 
 [ 1 drug ] 		 1 gene 
 1 pathway 		(1) About 200 patients
(2) 88 patients
Age distribution💬
 291 Hirschsprung disease, entire colon type [Gast] 💬
entire colon type", "Hirschsprung disease, small intestine type", "Hirschsprung disease", "Hirschprung disease", "Hirschsprung disease associated entercolitis"		 14 trials 
 0 / 1 / 2 / 1 💬 		 35 drugs 
 [ 15 drugs ] 		 - (1) About 10,000 patients (Among them, entire colon type and small intestine type: About 1,000 patients)
(2) 19 patients
Age distribution💬
 292 Cloacal exstrophy [Gast] 💬
"Vesicointestinal fissure"		 -  -  - (1) About 300 patients
(2) 16 patients
Age distribution💬
 293 Persistent cloaca [Gast] 💬
 -  -  - (1) About 600 patients
(2) 42 patients
Age distribution💬
 294 Congenital diaphragmatic hernia [Resp] 💬
 15 trials 
 6 / 2 / 7 / 3 💬 		 36 drugs 
 [ 6 drugs ] 		 5 genes 
 14 pathways 		(1) About 5,000 patients
(2) 13 patients
Age distribution💬
 295 Infant huge hepatic hemangioma [Gast] 💬
"Infant giant liver hemangioma"		 -  -  - (1) Less than 100 patients
(2) -
 296 Biliary atresia [Gast] 💬
 63 trials 
 6 / 18 / 10 / 5 💬 		 65 drugs 
 [ 37 drugs ] 		 45 genes 
 63 pathways 		(1) About 3,500 patients
(2) 422 patients
Age distribution💬
 297 Alagille syndrome [Chr] 💬
 43 trials 
 12 / 21 / 16 / 2 💬 		 19 drugs 
 [ 9 drugs ] 		 2 genes 
 2 pathways 		(1) About 200~300 patients
(2) 41 patients
Age distribution💬
 298 Hereditary pancreatitis [Gast] 💬
"Chronic pancreatitis"		 98 trials 
 20 / 26 / 17 / 8 💬 		 180 drugs 
 [ 57 drugs ] 		 53 genes 
 142 pathways 		(1) About 300~400 patients
(2) 31 patients
Age distribution💬
 299 Cystic fibrosis [Gast] 💬
 1,696 trials 
 682 / 508 / 620 / 215 💬 		 1,644 drugs 
 [ 272 drugs ] 		 96 genes 
 170 pathways 		(1) Less than 100 patients
(2) 12 patients
Age distribution💬
 300 IgG4-related disease [Imm] 💬
"Autoimmune pancreatitis", "IgG4-related sclerosing cholangitis", "IgG4-related lacrimal gland, orbital, and salivary gland lesions", "IgG4-related kidney disease"		 36 trials 
 4 / 8 / 14 / 4 💬 		 49 drugs 
 [ 22 drugs ] 		 16 genes 
 98 pathways 		(1) About 8,000 patients
(2) 3,371 patients
Age distribution💬
 301 Macular dystrophy [Eye] 💬
"Vitelliform macular dystrophy", "Best vitelliform macular dystrophy", "Best disease", "Stargardt disease", "Occult macular dystrophy", "Cone dystrophy", "Cone rod dystrophy", "X-linked juvenile retinoschisis", "Central areolar choroidal dystrophy"		 45 trials 
 26 / 28 / 9 / 2 💬 		 46 drugs 
 [ 12 drugs ] 		 9 genes 
 67 pathways 		(1) 1,000 patients
(2) 217 patients
Age distribution💬
 302 Leber hereditary optic neuropathy [Eye] 💬
 22 trials 
 28 / 11 / 16 / 6 💬 		 16 drugs 
 [ 4 drugs ] 		 5 genes 
 33 pathways 		(1) Estimated number of new occurrences per year: 117 patients
(2) 126 patients
Age distribution💬
 303 Usher syndrome [Eye] 💬 [Ear] 💬
 9 trials 
 9 / 9 / 3 / 1 💬 		 13 drugs 
 [ - ] 		 - (1) About 8,160 patients
(2) 20 patients
Age distribution💬
 304 Juvenile-onset bilateral sensorineural hearing loss [Ear] 💬
 -  -  - (1) About 4,000 patients
(2) 42 patients
Age distribution💬
 305 Delayed endolymphatic hydrops [Ear] 💬
 1 trial 
 0 / 0 / 0 / 0 💬 		 1 drug 
 [ 1 drug ] 		 - (1) About 4,000~5,000 patients
(2) 27 patients
Age distribution💬
 306 Eosinophilic sinusitis [Imm] 💬 [Ear] 💬
 -  -  - (1) About 20,000 patients
(2) 17,525 patients
Age distribution💬
 307 Canavan disease [Neu] 💬
 5 trials 
 3 / 3 / 0 / 0 💬 		 9 drugs 
 [ 3 drugs ] 		 2 genes 
 2 pathways 		(1) A few patients
(2) 1 patient
Age distribution💬
 308 Progressive leukoencephalopathy [Neu] 💬
"Megalencephalic leukoencephalopathy with subcortical cyst", "Leukoencephalopathy with vanishing white matter", "Leukoencephalopathy, progressive, with ovarian failure"		 -  -  - (1) Less than 100 patients
(2) 20 patients
Age distribution💬
 309 Progressive myoclonus epilepsy [Neu] 💬
"Unverricht-Lundborg disease", "Lafora disease", "Benign adult familial myoclonus epilepsy", "BAFME"		 11 trials 
 0 / 0 / 4 / 0 💬 		 15 drugs 
 [ 2 drugs ] 		 4 genes 
 9 pathways 		(1) About 3,000 patients
(2) 41 patients
Age distribution💬
 310 Congenital anomalies syndrome [Chr] 💬
"Partial trisomy 1q syndrome", "Trisomy 1q", "9q34 deletion syndrome", "Cornelia de Lange syndrome", "CdLS", "Smith-Lemli-Opitz syndrome", "SLO syndrome"		 10 trials 
 2 / 7 / 0 / 0 💬 		 18 drugs 
 [ 10 drugs ] 		 3 genes 
 7 pathways 		(1) About 4,000 patients
(2) 30 patients
Age distribution💬
 311 Congenital tricuspid stenosis [Card] 💬
 -  -  - (1) About 500 patients
(2) 3 patients
Age distribution💬
 312 Congenital mitral stenosis [Card] 💬
 -  -  - (1) About 100 patients
(2) 12 patients
Age distribution💬
 313 Congenital pulmonary vein stenosis [Card] 💬
 -  -  - (1) About 80 patients
(2) 1 patient
Age distribution💬
 314 Vascular sling [Card] 💬
 -  -  - (1) About 600 patients
(2) 2 patients
Age distribution💬
 315 Nail-Patella syndrome [Kid] 💬
"LMX1B-associated nephropathy"		 -  -  - (1) About 500 patients
(2) 7 patients
Age distribution💬
 316 Carnitine cycle disorder [Met] 💬
"Carnitine palmitoyltransferase I deficiency", "CPT1 deficiency", "Carnitine palmitoyltransferase II deficiency", "CPT2 deficiency", "Carnitine-acylcarnitine translocase deficiency", "CACT deficiency", "Carnitine transporter deficiency", "OCTN-2 deficiency"		 4 trials 
 0 / 1 / 1 / 0 💬 		 10 drugs 
 [ 4 drugs ] 		 2 genes 
 11 pathways 		(1) About 960 patients
(2) 19 patients
Age distribution💬
 317 Trifunctional protein deficiency [Met] 💬
"TFP deficiency", "Trifunctional protein deficiency, neonatal onset", "TFP deficiency, neonatal onset", "Trifunctional protein deficiency, infant onset", "TFP deficiency, infant onset", "Trifunctional protein deficiency, delayed onset", "TFP deficiency, delayed onset", "Trifunctional protein deficiency, pre onset", "TFP deficiency, pre onset"		 3 trials 
 0 / 0 / 0 / 0 💬 		 8 drugs 
 [ 4 drugs ] 		 1 gene 
 1 pathway 		(1) Less than 100 patients
(2) 4 patients
Age distribution💬
 318 Citrin deficiency [Met] 💬
"Neonatal intrahepatic cholestasis caused by citrin deficiency", "NICCD", "Adult-onset type II citrullinemia", "CTLN2"		 2 trials 
 0 / 1 / 0 / 0 💬 		 2 drugs 
 [ 2 drugs ] 		 - (1) About 1,500 patients
(2) 62 patients
Age distribution💬
 319 Sepiapterin reductase deficiency [Met] 💬
 -  -  - (1) Less than 100 patients (About one patient)
(2) 2 patients
Age distribution💬
 320 Inherited glycosylphosphatidylinositol deficiency [Neu] 💬
"Inherited GPI deficiency", "IGD", "Congenital glycosylphosphatidylinositol deficiency", "Congenital GPI deficiency"		 3 trials 
 0 / 0 / 0 / 0 💬 		 2 drugs 
 [ 2 drugs ] 		 - (1) Less than 100 patients
(2) -
 321 Non-ketotic hyperglycinemia [Met] 💬
"NKH", "Neonatal non-ketotic hyperglycinemia", "Neonatal NKH", "Infantile non-ketotic hyperglycinemia", "Infantile NKH"		 1 trial 
 0 / 0 / 0 / 0 💬 		 2 drugs 
 [ 2 drugs ] 		 - (1) Less than 100 patients
(2) 2 patients
Age distribution💬
 322 Beta-ketothiolase deficiency [Met] 💬
 -  -  - (1) Less than 100 patients
(2) -
 323 Aromatic L-amino acid decarboxylase deficiency [Met] 💬
 1 trial 
 0 / 0 / 0 / 0 💬 		 2 drugs 
 [ 1 drug ] 		 3 genes 
 2 pathways 		(1) Less than 100 patients (About 10 cases)
(2) 4 patients
Age distribution💬
 324 Methylglutaconic aciduria [Met] 💬
"3-methylglutaconyl-CoA hydratase deficiency", "3-methylglutaconic aciduria", "3-MGA", "3-MGA type I", "Barth syndrome", "3-MGA type II", "Costeff syndrome", "3-MGA type III", "Mitochondrial respiratory chain disorder", "3-MGA type IV", "Dilated cardiomyopathy with ataxia syndrome", "DCMA syndrome", "3-MGA type V"		 4 trials 
 5 / 2 / 2 / 1 💬 		 4 drugs 
 [ 3 drugs ] 		 1 gene 
 10 pathways 		(1) Less than 100 patients
(2) 1 patient
Age distribution💬
 325 Hereditary autoinflammatory syndrome [Imm] 💬
"NLRC4 abnormality", "Adenosine deaminase 2 deficiency", "ADA2 deficiency", "DADA2", "Aicardi-Goutieres syndrome", "AGS", "A20 haploinsufficiency", "HA20"		 7 trials 
 1 / 6 / 1 / 0 💬 		 16 drugs 
 [ 6 drugs ] 		 2 genes 
 35 pathways 		(1) Less than 100 patients (Adult patients reported in all cases)
(2) 13 patients
Age distribution💬
 326 Osteopetrosis [Met] 💬
"Neonatal / infantile osteopetrosis", "Intermediate osteopetrosis", "Delayed-onset osteopetrosis"		 20 trials 
 5 / 13 / 4 / 0 💬 		 51 drugs 
 [ 14 drugs ] 		 17 genes 
 81 pathways 		(1) About 100 patients
(2) 23 patients
Age distribution💬
 327 Idiopathic thrombosis [Hem] 💬
 -  -  - (1) Based on the national survey of the research group, the total number of patients in Japan is estimated as about 2,000 patients. Occurrence per year in naonates and infants: Less than 100 patients, in adult: About 500 patients.
(2) 205 patients
Age distribution💬
 328 Anterior segment dysgenesis [Eye] 💬
"ASD"		 -  -  - (1) About 6,000 patients
(2) 13 patients
Age distribution💬
 329 Aniridia [Eye] 💬
 3 trials 
 0 / 2 / 0 / 0 💬 		 2 drugs 
 [ 2 drugs ] 		 - (1) About 1,200 patients
(2) 120 patients
Age distribution💬
 330 Congenital tracheal stenosis [Resp] 💬
"Congenital subglottic stenosis"		 1 trial 
 0 / 1 / 0 / 0 💬 		 3 drugs 
 [ 2 drugs ] 		 - (1) About 1,000 patients
(2) 41 patients
Age distribution💬
 331 Idiopathic multicentric castleman disease [Hem] 💬
"iMCD", "Castleman disease"		 33 trials 
 16 / 23 / 2 / 4 💬 		 46 drugs 
 [ 25 drugs ] 		 31 genes 
 155 pathways 		(1) About 1,500 patients
(2) 1,526 patients
Age distribution💬
 332 Gelatinous drop-like corneal dystrophy [Eye] 💬
 -  -  - (1) About 400 patients
(2) 4 patients
Age distribution💬
 333 Hutchinson-Gilford syndrome [Chr] 💬
"Hutchinson-Gilford progeria syndrome", "HGPS"		 7 trials 
 2 / 5 / 0 / 0 💬 		 8 drugs 
 [ 3 drugs ] 		 4 genes 
 6 pathways 		(1) Less than 100 patients
(2) -
 334 Cerebral creatine deficiency syndrome [Neu] 💬
"CCDS"		 -  -  - (1) Less than 100 patients
(2) -
 335 Nephronophthisis [Kid] 💬
"NPHP", "NPH"		 -  -  - (1) About 130-220 patients
(2) 3 patients
Age distribution💬
 336 Familial hypobetalipoproteinemia 1 [Met] 💬
"FHBL1"		 -  -  - (1) Several families only
(2) -
 337 Homocystinuria [Met] 💬
"Homocystinuria type I", "Cystathionine beta-synthase deficiency", "CBS deficiency", "Homocystinuria type II", "Homocystinuria cblC type", "Cobalamin C deficiency", "cblC deficiency", "Homocystinuria type III", "Methylenetetrahydrofolate reductase deficiency", "MTHFR deficiency"		 13 trials 
 5 / 9 / 0 / 0 💬 		 13 drugs 
 [ 4 drugs ] 		 2 genes 
 23 pathways 		(1) Type I (CBS deficiency): About 200 patients; Type II: Less than 100 patients; Type III: Less than 100 patients
(2) 11 patients
Age distribution💬
 338 Progressive familial intrahepatic cholestasis [Gast] 💬
"PFIC"		 60 trials 
 37 / 19 / 41 / 7 💬 		 25 drugs 
 [ 6 drugs ] 		 2 genes 
 2 pathways 		(1) About 100 patients
(2) 2 patients
Age distribution💬